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Journal articles on the topic 'Gene polymorphisms'
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1
Laine, Marja L., Bruno G. Loos, and W. Crielaard. "Gene Polymorphisms in Chronic Periodontitis." International Journal of Dentistry 2010 (2010): 1–22. http://dx.doi.org/10.1155/2010/324719.
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We aimed to conduct a review of the literature for gene polymorphisms associated with chronic periodontitis (CP) susceptibility. A comprehensive search of the literature in English was performed using the keywords: periodontitis, periodontal disease, combined with the words genes, mutation, or polymorphism. Candidate gene polymorphism studies with a case-control design and reported genotype frequencies in CP patients were searched and reviewed. There is growing evidence that polymorphisms in theIL1, IL6, IL10, vitamin D receptor, andCD14genes may be associated with CP in certain populations. However, carriage rates of the rare -allele of any polymorphism varied considerably among studies and most of the studies appeared under-powered and did not correct for other risk factors. Larger cohorts, well-defined phenotypes, control for other risk factors, and analysis of multiple genes and polymorphisms within the same pathway are needed to get a more comprehensive insight into the contribution of gene polymorphisms in CP.
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Čítek, J., L. Hanusová, M. Brzáková, L. Večerek, L. Panicke, and L. Lískovcová. "Associations between gene polymorphisms, breeding values, and glucose tolerance test parameters in German Holstein sires." Czech Journal of Animal Science 63, No. 5 (April 26, 2018): 167–73. http://dx.doi.org/10.17221/8/2017-cjas.
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The association between several gene polymorphisms, the estimated breeding values for milk performance traits, and glucose metabolism measured by the glucose tolerance test (GTT) in German Holstein sires were evaluated. Polymorphisms in DGAT1, GH1, GHR, FASN, and OLR1 genes were not associated with the GTT. A significant relationship was obtained for the DGAT1 AA/GC polymorphism and estimated breeding values for milk performance (milk yield, fat and protein yield, fat and protein percentage). The polymorphism in GHR was significantly associated with estimated breeding values for fat yield, and the polymorphism in OLR1 with estimated breeding value for protein yield. It shows the importance of the polymorphisms and makes their use in the breeding possible. GTT may be helpful in metabolic analyses, but the gene polymorphisms assessed in our study were not associated with GTT traits and further studies should examine other gene polymorphisms to support the role of GTT for potential breeding purposes.
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Fitriyani, Hilda, Delyuzar, and Hidayat. "Identification of CYP1A1 Gene Polymorphism in Squamous Cell Carcinoma and Cervical Adenocarcinoma." Majalah Patologi Indonesia 29, no. 2 (May 1, 2020): 65–70. http://dx.doi.org/10.55816/mpi.v29i2.410.
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BackgroundCervical cancer is the third most common cancer in women with risk factor of smoking, high parity, long term use of oralcontaception that are associated with chemical carcinogenesis. Chemical carcinogenesis require biotransfor-mation of lipophilicsubstrates to hydrophilic metabolites, therefore facilitating their secretion from the human body. Cytochrome P450 (CYP) is one ofgenes that have important role in this process. Benzo[α]pyrene and estrogen have a common biotransformation process which ismetabolized by CYP, particularly CYP1A1. The objectives to identify the frequency and distribution of CYP1A1 gene polymorphismin squamous cell carcinoma and adenocarcinoma of the cervix.MethodsThis is an analytical descriptive study with cross sectional approach. CYP1A1 gene polymorphism (3801T/C or Ile462Val) wasanalyzed using PCR-RFLP method followed by gel electrophoresis.ResultsCYP1A1 gene polymorphisms (3801TC) in squamous cell carcinoma were 50% heterozygote T/C, 36% wild-types T/T and 14%homozygote C/C. CYP1A1 gene polymorphisms (3801TC) in adenocarcinoma were 60% heterozygote T/C and 40% wild-types T/T.CYP1A1 gene polymorphisms (Ile462Val) in squamous cell carcinoma were 97.2% heterozygote Ile/Val, and 2.8% homozygoteVal/Val. CYP1A1 gene polymorphisms (Ile462Val) in adenocarcinoma were 100% heterozygote Ile/ValConclusionThe most common type of CYP1A1 gene polymorphism (3801TC and Ile462Val) in squamous cell carcinoma and adenocarcinomaof the cervix were heterozygote.
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Horst-Sikorska, Wanda, Magdalena Ignaszak-Szczepaniak, Michalina Marcinkowska, Marta Kaczmarek, Malgorzata Stajgis, and Ryszard Slomski. "Association analysis of vitamin D receptor gene polymorphisms with bone mineral density in young women with Graves' disease." Acta Biochimica Polonica 55, no. 2 (May 26, 2008): 371–80. http://dx.doi.org/10.18388/abp.2008_3085.
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Graves' (GD) hyperthyroidism induces accelerated bone turnover that leads to decreased bone mineral density (BMD). The role of the VDR gene in predisposition to primary osteoporosis has been recognized. Recent studies show associations between the VDR gene polymorphisms and susceptibility to autoimmune diseases. Here we analyzed if VDR gene polymorphisms: BsmI, ApaI, TaqI, and FokI may predispose women with Graves' hyperthyroidism to BMD reduction or to disease development. The subjects were 75 premenopausal female Polish patients with GD and 163 healthy women. The genotyping was performed by the use of the restriction fragment length polymorphism analysis (RFLP). We studied the association of the VDR polymorphisms and their haplotypes with patients' BMD and also SNPs and haplotypes association with Graves' disease. We found a strong linkage disequilibrium for the BsmI, ApaI, and TaqI polymorphims that formed three most frequent haplotypes in Graves' women: baT (47.9%), BAt (34.9%), and bAT (16.4%). We did not show statistically significant association of analyzed VDR polymorphisms or haplotypes with decreased bone mineral density in Graves' patients. However, the presence of F allele had a weak tendency to be associated with Graves' disease (with OR=1.93; 95% CI: 0.97-3.84; p=0.058). VDR gene polymorphisms do not predict the risk of decreased BMD in Polish women with Graves'. It may be speculated that the F allele carriers of the VDR-FokI polymorphism are predisposed to Graves' disease development.
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Protas, Valeria, Gayane Pogossyan, Konstantin Li, and Michael Danilenko. "Vitamin D receptor gene polymorphisms characteristic." Bulletin of the Karaganda University. “Biology, medicine, geography Series” 104, no. 4 (December 30, 2021): 60–70. http://dx.doi.org/10.31489/2021bmg4/60-70.
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The article presents the characteristics of the main vitamin D receptor (VDR) gene polymorphisms: rs2228570 (FokI), rs731236 (TaqI), rs1544410 (BsmI) and rs7975232 (ApaI). The role of the vitamin D hormonally active form (1,25(OH)2D3, calcitriol) as a transcription factor regulating gene expression in target cells by binding to the vitamin D receptor protein is described. The immunomodulatory and mediating effect of VDRs on the biological functions of the human body has been noted. A description of the vitamin D receptor gene and its polymorphic character have been provided. The analysis of the four most significant single nucleotide polymorphisms (SNPs) of the VDR gene was carried out. A detailed description of each polymorphism, its genomic position, the nature of interaction with other polymorphisms of the vitamin D receptor gene, as well as its effect on the structure and activity of the VDR protein were given. The analysis of the indicated single-nucleotide polymorphisms allelic composition was conducted according to the literature and specialized SNP databases. The frequency of each polymorphism individual alleles occurrence, as well as their influence on the predisposition and course of various diseases, were studied. The need for further studies of VDR gene polymorphisms, their allelic composition and prevalence was designated. It is also necessary to study the possibilities of their potential use as genetic markers for such relevant but little-studied pathologies as COVID-19.
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Aniulis, Povilas, Aurelija Podlipskyte, Alina Smalinskiene, Rosita Aniuliene, and Mindaugas Jievaltas. "Association of gene polymorphisms with women urinary incontinence." Open Medicine 16, no. 1 (January 1, 2021): 1190–97. http://dx.doi.org/10.1515/med-2021-0332.
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Abstract Aim of study was set to investigate the association of women urinary incontinence (UI) with serotonin receptor HTR2A T102C and beta 3-adrenergic receptor ADRB3 Trp64Arg genes polymorphisms. The study included 110 women with Urge, Stress, and Mixed UI types and the control group – 105 continent women. Both groups have filled in the ICIQ-FLUTS questionnaire and their blood genotyping was performed. Urge UI subgroup was older and had higher body mass index (BMI) in comparison to other UI types and control group. More than half of all women had family history of UI in Stress UI and Mixed UI subgroups. The frequency of HTR2A T102C gene polymorphism’s minor allele C and genotype CC was significantly more expressed in Urge UI subgroup, as compared with control group (C-77.3 vs 58.7%, p = 0.007 and CC-57.6 vs 31.1%, p = 0.015). The ADRB3 Trp64Arg gene polymorphism did not differ between groups. The regression analysis revealed CC genotype (OR = 3.06, 95% CI: 1.11–8.43; p = 0.030) and allele C (OR = 2.53, 95% CI: 1.16–5.53; p = 0.020) were risk factors for development of Urge UI. We conclude that HTR2A T102C gene polymorphism affected the development of Urge UI.
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Kulig, Hanna, Marek Kmieć, and Katarzyna Wojdak-Maksymiec. "Associations between Leptin Gene Polymorphisms and Somatic Cell Count in Milk of Jersey Cows." Acta Veterinaria Brno 79, no. 2 (2010): 237–42. http://dx.doi.org/10.2754/avb201079020237.
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A total of 181 Jersey cows were used to investigate how leptin gene polymorphisms affect somatic cell count (SCC) in milk. Three single nucleotide polymorphisms were genotyped, namely the R4C polymorphism in exon 2, the Sau3AI polymorphism in intron 2 and the A59V polymorphism in exon 3. The genotype and allele frequencies for each polymorphism and the haplotype frequencies for all polymorphisms were estimated in the herd under study. Statistical analysis revealed that the R4C and Sau3AI polymorphisms significantly affected SCC (P ⪬ 0.01) with C and T as a desirable allele, respectively. No associations were found between the A59V polymorphism and SCC in this study. However, all the genotype combinations (haplotypes) significantly affected this trait. The results indicate that selection for the R4C CC and Sau3AI TT animals might contribute to a reduction of SCC in Jersey cattle.
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Li, Yu, Qiang Zhang, Haiping Bao, and Chen Nie. "Association of 'Klotho' gene polymorphism with cerebral infarction." Journal of Medical Biochemistry 41, no. 2 (2022): 204–10. http://dx.doi.org/10.5937/jomb0-34196.
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Background: We aimed to investigate the expression of Klotho gene in peripheral blood of patients with cerebral infarction (CI) and the association of its polymorphisms with the occurrence of CI. Methods: A total of 60 CI patients (CI group) and 20 healthy people receiving physical examination (control group) were enrolled as the research subjects. The expression of Klotho gene in CI group and control group was determined using enzyme-linked immunosorbent assay kit. Single nucleotide polymorphisms (rs192031, rs200131 and rs102312) in the promoter region of the Klotho gene were typed via conformational difference gel electrophoresis. Besides, whether the distribution frequencies of Klotho genotypes conformed to Hardy-Weinberg equilibrium was evaluated by chi-square test. Meanwhile, the associations of Klotho alleles and gene polymorphisms with CI occurrence were analyzed. Results: The protein expression level of Klotho in the peripheral blood was remarkably lower in patients in CI group than that in control group (P<0.05).HardyWeinberg equilibrium analysis revealed that Klotho gene polymorphisms (rs192031, rs200131 and rs102312) conformed to the genetic equilibrium distribution (P>0.05). Gene-based association analysis manifested that only rs192031 polymorphism and alleles were correlated with CI occurrence (P<0.05). Systolic blood pressure and highdensity lipoprotein cholesterol were notably higher in CI patients with TT genotype of Klotho gene polymorphism rs192031 than those in control group (P<0.05). Furthermore, there were no associations of rs200131 and rs102312 polymorphisms and alleles with the occurrence of CI (P>0.05). Conclusions: The expression level of Klotho is evidently reduced in the peripheral blood of CI patients. Rs192031 in the promoter region of the Klotho gene is associated with the occurrence of CI, while rs200131 and rs102312 have no relations with CI.
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Delluc, Aurélien, Lénaïck Gourhant, Karine Lacut, Bernard Mercier, Marie-Pierre Audrezet, Emmanuel Nowak, Emmanuel Oger, et al. "Association of common genetic variations and idiopathic venous thromboembolism." Thrombosis and Haemostasis 103, no. 06 (2010): 1161–69. http://dx.doi.org/10.1160/th09-07-0430.
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SummaryVenous thromboembolism (VTE) is a multifactorial disease, caused by interacting environmental and genetic risk factors. Gene-centric geno-typing strategy is one of the approaches to explore unexplained associations between risk factors and VTE. It was the objective of this study to evaluate, using a gene-centric genotyping strategy, polymorphisms in genes involved in the following pathways: coagulation cascade process, renin-angiotensin or adrenergic systems, lipid metabolism, platelet aggregation. Allele frequency was compared between 677 cases with idiopathic VTE and their matched controls. After Bonferroni adjustment, four single nucleotide polymorphisms (SNPs) were significantly associated with VTE: Factor XI rs925451 polymorphism, factor XI rs2289252 polymorphism, factor II rs1799963 (G20210A) polymorphism and factor V Leiden rs6025. An additive mode of inheritance fitted best both factor XI polymorphisms. In this hospital-based case-control study, two polymorphisms located on the factor XI gene were significantly associated with VTE. Other newly investigated polymorphisms with potentially false negatives may warrant further analyses.
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Sorokina, E. Yu, N. N. Denisova, and E. E. Keshabyants. "Frequency of occurrence of genetic polymorphisms associated with sports success in elite athletes in team sports." Sports medicine: research and practice 11, no. 1 (June 28, 2021): 5–10. http://dx.doi.org/10.47529/2223-2524.2021.1.11.
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Objective: to evaluate the frequency of occurrence of polymorphisms rs1815739 (ACTN3 gene), rs2016520 (PPARD gene), rs1042713 (ADRB2 gene), rs1799945 (HFE gene) in athletes of highperformance sports.Materials and methods: genotyping was performed using allelespecific amplification with realtime detection of the results and using TaqMan probes.Results: a higher frequency of alleles associated with endurance was found: the t allele of the rs1815739 polymorphism (ACTN3 gene), the g allele of the rs2016520 polymorphism (PPARD gene), the g allele of the rs1042713 polymorphism (ADRB2 gene), and the g allele of the rs1799945 polymorphism (HFE gene) in athletes of game sports.Conclusion: the results of genotyping of polymorphisms associated with endurance in the examined athletes showed a higher frequency of occurrence than in the population as a whole.
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Ballester, Maria, Armand Sánchez, and Josep M. Folch. "Polymorphisms in the goat β-lactoglobulin gene." Journal of Dairy Research 72, no. 3 (May 9, 2005): 379–84. http://dx.doi.org/10.1017/s0022029905000981.
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β-lactoglobulin polymorphisms have been reported in the milk of different goat breeds, although no genetic variants affecting the protein have been characterized. In the present study, we amplified and sequenced the proximal promoter and the first six exons containing the entire coding region for the β-lactoglobulin gene in eleven goat breeds from Spain, France, Italy, Switzerland, Senegal and Asia to identify genetic variants. Fifteen polymorphisms were detected, nine in the promoter region and six in the exons of the β-lactoglobulin gene. All polymorphisms were single nucleotide substitutions with the exception of one deletion/insertion in the promoter region. The polymorphisms in the coding region did not produce any amino acid change. In addition, pyrosequencing technology was used to genotype four polymorphisms in the promoter region in 200 goats belonging to eleven breeds. Differences in allelic frequencies for these polymorphisms between breeds are described and a specific polymorphism for the Italian populations was identified. Finally, the analysis of association between these four promoter point mutations was investigated resulting in five haplotypes, GCGC being the most frequent haplotype in all breeds analysed.
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Kuessel, Lorenz, Christoph Grimm, Martin Knöfler, Peter Haslinger, Heinz Leipold, Georg Heinze, Christian Egarter, and Maximilian Schmid. "Common Oxytocin Receptor Gene Polymorphisms and the Risk for Preterm Birth." Disease Markers 34, no. 1 (2013): 51–56. http://dx.doi.org/10.1155/2013/798914.
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Oxytocin is crucially involved in the onset and maintenance of labor. We investigated the association between oxytocin receptor gene polymorphisms and preterm birth. The presence of four common oxytocin receptor gene polymorphisms (rs2254298, rs53576, rs2228485 and rs237911) was evaluated in one hundred women with preterm birth and one hundred healthy women using restriction fragment length polymorphism genotyping. No association was found between the presence of any individual oxytocin receptor gene polymorphism and preterm birth. In haplotype analysis, the haplotype combination of rs2254298 A allele, rs2228485 C allele and rs237911 G allele was found to be significantly associated with an increased risk of preterm birth (OR = 3.2 [CI 1.04–9.8],p= 0.043). In conclusion our findings suggest that a combination of three oxytocin receptor gene polymorphisms is associated with an increased risk for preterm birth. We propose further studies investigating the role of oxytocin receptor gene polymorphisms and preterm birth.
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Lorensia, Amelia, Zullies Ikawati, Tri Murti Andayani, Daniel Maranatha, and Mariana Wahyudi. "CYP1A2 Gene Polymorphism and Theophylline Level in Asthma." Indonesian Biomedical Journal 11, no. 1 (April 30, 2019): 63–9. http://dx.doi.org/10.18585/inabj.v11i1.475.
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BACKGROUND: Aminophylline (theophylline) is one of the most frequent asthma therapies in Indonesia, although it remains as a narrow therapy. The effects of drugs are individualized and strongly influenced by genetic, one of which is CYP1A2 gene polymorphisms. This study aimed to determine the profile of CYP1A2 polymorphism and theophylline level in asthma exacerbation patients receiving intravenous aminophylline therapy.METHODS: This cross sectional study was conducted in the emergency room (ER), to adults asthma exacerbation patients without complication (n=27), visiting the ER. The gene polymorphism data were compared with theophylline levels in the blood using chi-square test.RESULTS: In the CYP1A2 gene polymorphism profile, the most common heterozygous alleles are T/G genotype of CYP1A2*1E and C/A genotype of CYP1A2*1F. Most homozygote alleles exist in CYP1A2*1D and CYP1A2*1F. There was significant difference between CYP1A2*1D (p<0.005), CYP1A2*1E (p<0.023) and CYP1A2*1F (p<0.000) polymorphisms and theophylline level.CONCLUSION: CYP1A2*1D, CYP1A2*1E and CYP1A2*1F gene polymorphisms had an effect on theophylline levels. However, no one experienced an overdose theophylline, and no correlation between theophylline levels with CYP1A2 gene polymorphism.KEYWORDS: exacerbation asthma, intravenous aminophylline, CYP1A2 polymorphism gene, theophylline
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Bulan, B., AY Hoscan, SN Keskin, A. Cavus, EA Culcu, N. Isik, EO List, and A. Arman. "Vitamin D receptor polymorphisms among the Turkish population are associated with multiple sclerosis." Balkan Journal of Medical Genetics 25, no. 1 (June 1, 2022): 41–50. http://dx.doi.org/10.2478/bjmg-2022-0003.
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Abstract Multiple sclerosis (MS) is an inflammatory disease characterized by demyelination and axonal degeneration affecting the central nervous system. Among the genetic factors suggested to be associated with this disease are polymorphisms to the vitamin D receptor (VDR) gene. We tested the hypothesis that polymorphisms in the vitamin D receptor (VDR) gene are associated with MS. The aim of the study was to investigate the relationship of MS with the VDR gene Fok-I, Bsm-I and Taq-I polymorphisms among the Turkish population. This study contains 271 MS patients and 203 healthy controls. Genomic DNA was isolated from the samples and the VDR gene Fok-I, Bsm-I and Taq-I polymorphism regions were amplified by polymerase chain reaction (PCR). The PCR products were digested, and the genotypes were determined based on size of digested PCR products. Our results demonstrate associations between MS and the distribution of the VDR gene Fok-I T/T polymorphism genotype in a dominant model, VDR gene Fok-I T allele frequency, distribution of VDR gene Taq-I C/C polymorphism genotype in a dominant model and VDR gene Taq-I C allele frequency (Pearson test, p<0.05). However, there was no association between MS and the VDR gene Bsm-I polymorphisms for the genotype distribution (Pearson test, p>0.05) or allele frequency (Pearson test, p>0.05). Fok-I and Taq-I VDR gene polymorphisms are significantly associated with MS in dominant, homozygote and heterozygote inheritance models among the Turkish population.
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He, Lei, Tao Deng, and He-sheng Luo. "Heat Shock Protein 70 Gene Polymorphisms and Cancer Risk: A Meta-Analysis." Scientific World Journal 2014 (2014): 1–9. http://dx.doi.org/10.1155/2014/540309.
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The polymorphisms in the three main heat shock protein 70 (HSP70-1, HSP70-2, and HSP70-hom) genes were identified to be associated with cancer risk. However, the results are inconsistent. We perform a meta-analysis to evaluate the association between the three HSP70 polymorphisms and cancer risk. Relevant studies were identified using PubMed, Web of Science, Chinese National Knowledge Infrastructure (CNKI), and Wanfang databases up to March 29, 2014. The cancer risk associated with the HSP70 polymorphisms was estimated for each study by odds ratios (OR) together with its 95% confidence interval (CI), respectively. Twenty case-control studies from eighteen publications were included; a significant association was observed for HSP70-2 polymorphism (dominant model: OR = 1.53, 95% CI: 1.11–2.09; recessive model: OR = 1.91, 95% CI: 1.06–3.45; AG versus AA: OR = 1.38, 95% CI: 1.03–1.84; GG versus AA: OR = 2.34, 95% CI: 1.21–4.54), while there was no significant association for HSP70-1 and HSP70-hom polymorphisms. Besides, in stratification analyses by ethnicity, cancer type, and source of control, significant association was detected for HSP70-2 polymorphism, while for HSP70-hom polymorphism, we found a significant association in hospital-based population under homozygote comparison model. This meta-analysis suggests that the HSP70-2 polymorphism rather than HSP70-hom and HSP70-1 polymorphisms was associated with the risk of cancer.
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Bakhareva, Y. S., V. N. Maksimov, A. A. Ivanova, N. N. Chapaeva, S. V. Aidagulova, and M. I. Voevoda. "Polymorphisms of candidate genes determining the clinical and hemostasiological characteristics of endocarditis of various etiology." Bulletin of Siberian Medicine 21, no. 1 (April 12, 2022): 6–13. http://dx.doi.org/10.20538/1682-0363-2022-1-6-13.
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Aim. To investigate polymorphisms of 18 genes as possible molecular genetic markers of predisposition or resistance to development of non-infective (NE) or infective endocarditis (IE).Materials and methods. The study encompassed 81 patients with NE and 94 patients with IE. The control group included 225 conditionally healthy people. Polymorphisms of 18 genes were tested using polymerase chain reaction (PCR).Results. For the first time, a statistically significant relationship was identified between gene polymorphisms and valvular vegetations: for genes in the hemostatic system – rs6025 (1691 G > A) of the F5 gene (AG genotype), rs1126643 (807 C > T) of the ITGA2 gene (TT genotype); for folate pathway genes – rs1805087 (2756 A > G) of the MTR gene (AG genotype) and rs11697325 (–8202 A/G) of the MMP9 gene (AA genotype) and rs2476601 (C1858T) of the PTPN22 gene (TT genotype). The protective effect of gene polymorphisms was revealed: for the NOS3 gene (4b / 4b genotype) and G (–572) C of the IL6 gene (CC genotype). For two polymorphisms, an association with thromboembolic complications in NE was revealed: rs1126643 (807 C > T) of the ITGA2 gene and rs1799889 (–675 5G > 4G) of the PAI (SERPINE1) gene. In IE, such an association was detected for the polymorphism rs11697325 (–8202 A/G) of the MMP-9 gene.Conclusion. The polymorphisms of candidate genes were revealed, that are associated with the clinical and hemostasiological characteristics of IE and NE. In NE, for the first time, the association with thromboembolic complications was identified for two polymorphisms: rs1126643 (807 C > T) of the ITGA2 gene and rs1799889 (– 675 5G > 4G) of the PAI-1 (SERPINE1) gene. In IE, such a relationship was detected for one polymorphism – rs11697325 (8202 A/G) of the MMP-9 gene.
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Ismayilova, Nergiz, Melis Palamar, Huseyin Onay, Emine Ipek Ceylan, Tahir Atik, Taner Akalin, and Ayse Yagci. "Vitamin D receptor gene polymorphisms in ocular surface squamous cell neoplasms." European Journal of Ophthalmology 30, no. 5 (June 24, 2019): 901–7. http://dx.doi.org/10.1177/1120672119858225.
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Purpose: To investigate vitamin D receptor polymorphisms in ocular surface squamous cell neoplasm and to evaluate the relationship between the identified polymorphisms and susceptibility to ocular surface squamous cell neoplasm and the clinical course. Materials and Methods: A totala of 70 patients with ocular surface squamous cell neoplasm (study group) and 75 healthy age and gender-matched individuals (control group) were included in the study. Vitamin D receptor FokI and BsmI polymorphisms were examined. The relationships between histopathological diagnosis, recurrence rates, tumor stage, and identified polymorphisms were investigated. Results: Histopathologically, 43 of the cases were squamous cell carcinoma and 27 of the cases were conjunctival intraepithelial neoplasia. The frequency of FokI (FF, Ff, ff) and BsmI (BB, Bb, bb) polymorphism genotype of vitamin D receptor gene were similar in the groups. The frequency of polymorphism (heterozygous or homozygous) for BsmI (Bb and bb) was significantly higher (p = 0.046) in the study group, while no difference was found between the groups in terms of polymorphic carriers (heterozygous or homozygous) for FokI. There was no correlation between tumor stage, recurrence-polymorphism frequency, and patient age-polymorphism frequency. Conclusion: It is known that active vitamin D inhibits the growth of cancer cells by binding to vitamin D receptor with regulation of genes responsible for cell proliferation. The presence of BsmI polymorphism in vitamin D receptor, in particular bb genotype and b allele, appears to be associated with the susceptibility of ocular surface squamous cell neoplasm. BsmI gene polymorphisms of vitamin D receptor might play an effective role in the formation, progression, and in the course of ocular surface squamous cell neoplasm.
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Vargas-Alarcón, Gilberto, Julian Ramírez-Bello, Marco Antonio Peña-Duque, Marco Antonio Martínez-Ríos, Hilda Delgadillo-Rodríguez, and José Manuel Fragoso. "CASP1 Gene Polymorphisms and BAT1-NFKBIL-LTA-CASP1 Gene–Gene Interactions Are Associated with Restenosis after Coronary Stenting." Biomolecules 12, no. 6 (May 31, 2022): 765. http://dx.doi.org/10.3390/biom12060765.
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In the present study, we evaluated the association of the BAT1, NFKBIL, LTA, and CASP1 single nucleotide polymorphisms and the gene–gene interactions with risk of developing restenosis after coronary stenting. The allele and genotype determination of the polymorphisms (BAT1 rs2239527 C/G, NFKBIL1 rs2071592 T/A, LTA rs1800683 G/A, CASP1 rs501192 A/G, and CASP1 rs580253 A/G) were performed by 5’exonuclease TaqMan assays in 219 patients: 66 patients with restenosis and 153 without restenosis. The distribution of rs2239527 C/G, rs2071592 T/A, and rs1800683 G/A polymorphisms was similar in patients with and without restenosis. Nonetheless, under recessive (OR = 2.73, pCRes = 0.031) and additive models (OR = 1.65, pCAdd = 0.039), the AA genotype of the rs501192 A/G polymorphism increased the restenosis risk. Under co-dominant, dominant, recessive, and additive models, the AA genotype of the rs580253 A/G was associated with a high restenosis risk (OR = 5.38, pCCo-Dom = 0.003; OR = 2.12, pCDom = 0.031; OR = 4.32, pCRes = 0.001; and OR = 2.16, 95%CI: 1.33–3.52, pCAdd = 0.001, respectively). In addition, we identified an interaction associated with restenosis susceptibility: BAT1-NFKBIL1-LTA-CASP1 (OR = 9.92, p < 0.001). In summary, our findings demonstrate that the rs501192 A/G and rs580253 A/G polymorphisms, as well as the gene–gene interactions between BAT1-NFKBIL1-LTA-CASP1, are associated with an increased restenosis risk after coronary stenting.
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Luan, Xiaohui, Yuxun Zhou, Wei Wang, Hong Yu, Pin Li, Xiaohong Gan, Dongzhi Wei, and Junhua Xiao. "Association study of the polymorphisms in the KISS1 gene with central precocious puberty in Chinese girls." European Journal of Endocrinology 157, no. 1 (July 2007): 113–18. http://dx.doi.org/10.1530/eje-07-0061.
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Objective: The kisspeptin/GPR54 pathway has been proven to be crucial in the process of puberty onset, yet the polymorphisms in the KISS1 gene and their relationships with central precocious puberty (CPP) have not been investigated. This study was performed to reveal the relationship between the gene and the disease. Design and Methods: 272 Chinese Han girls diagnosed to be CPP patients were recruited as Case Group I, 43 unrelated African women as Case Group II, and 288 unrelated normal Chinese Han girls as Control Group. Polymorphism scans of the KISS1 gene were performed for the first time by bidirectional resequencing of the whole gene in a subset of the patients, and then by ligase detection reaction some of the polymorphisms identified were typed in the two groups and the respective haplotypes were constructed. The relationships of the typed polymorphisms and the haplotypes with CPP were evaluated by an association study between genotypes and phenotypes. Results: By resequencing, eight polymorphisms were identified, five of which were typed forming 18 haplotypes. Although one novel nonsynonymous single nucleotide polymorphism substituting one amino acid in kisspeptin (P110T) was found to be statistically related to the disease (P = 0.025), no further supporting evidence has yet been found. The other polymorphisms and all the haplotypes were not found to be related. Conclusion: The polymorphism scanning and typing of KISS1 uncovered several potentially meaningful polymorphisms, but the conclusion was not solid and further studies are necessary for function validation of these polymorphisms.
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Liu, Li-Herng Eric, Wesley Gladwell, and Christina T. Teng. "Detection of exon polymorphisms in the human lactoferrin gene." Biochemistry and Cell Biology 80, no. 1 (February 1, 2002): 17–22. http://dx.doi.org/10.1139/o01-207.
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We previously demonstrated that lactoferrin gene polymorphisms occur in cancer cells of patients with leukemia and breast cancer. In this study, we established a non-radioactive polymerase chain reactionsingle strand conformation polymorphism (PCRSSCP) analysis, one of the most sensitive and simplest methods to detect polymorphisms and mutations of the human lactoferrin gene. We optimized the PCR conditions for nine different DNA templates and 16 pairs of exon primers for SSCP analysis. The DNA templates used in the analyses were prepared from a cosmid clone (CT61) that contains the human lactoferrin gene, human placental tissue, leukocytes from 10 normal volunteers, leukemic cells of two patients, and previously established three breast and two leukemic cell lines. With the appropriate exon-primer sets, PCR products from exon 1 to exon 16 of the lactoferrin gene were generated from the DNA templates and analyzed by SSCP. Compared with the homogenous cloned DNA, lactoferrin gene polymorphisms were detected within exons 2, 5, 7, 9, 13, 14, and 15 of the normal placental and leukocyte DNA. In addition, abnormal migration patterns of the lactoferrin gene in cancer cells were detected in exons 4, 5, 13, 14, and 15. The PCRSSCP band migration patterns can be attributed either to gene polymorphism in normal cells or to DNA mutations in cancer cells and the employed method cannot distinguish between them. Nonetheless, the present analysis suggests that genetic polymorphisms of the lactoferrin gene exist in selected exons and additional mutations of the lactoferrin gene do occur in the cancer cells.Key words: lactoferrin, polymorphisms, human lactoferrin, single-strand conformation polymorphism (SSCP).
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Cakina, Suat, Ozgul Ocak, Adile Ozkan, Selma Yucel, and Handan Isin Ozisik Karaman. "Vitamin D receptor gene polymorphisms in multiple sclerosis disease: A case-control study." Revista Romana de Medicina de Laborator 26, no. 4 (October 1, 2018): 489–95. http://dx.doi.org/10.2478/rrlm-2018-0028.
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Abstract Multiple sclerosis (MS) is a common neurologic disorder that is a chronic inflammatory, demyelinating, and neurodegenerative disease of the central nervous system (CNS). Its etiology remains unknown. Several recent studies have found that decreased susceptibility to vitamin D deficiency is also associated with a decreased risk of MS. The role of vitamin D receptor (VDR) gene and its polymorphisms are highlighted as susceptible components. In this study, we aimed to identify the relationship between ApaI (rs7975232), BsmI (rs 1544410), and TaqI (rs731236) gene polymorphisms with MS. ApaI, BsmI, and TaqI genotypes were determined in 70 patients with MS and in 70 control subjects. DNA was isolated from blood samples, and then ApaI, BsmI and TaqI gene polymorphisms were identified using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The distribution of BsmI and TaqI polymorphisms did not show any significant differences in MS patients and controls; however, increased A allele of ApaI polymorphism was found in MS patients. Our findings suggest that the ApaI gene polymorphism might be associated with MS. Investigation of a larger population and functional work on these gene structures and function in MS patients are recommended.
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Wu, Fang, Wanjiang Zhang, Le Zhang, Jiangdong Wu, Chunzhu Li, Xianjie Meng, Xi Wang, Peng He, and Jie Zhang. "NRAMP1, VDR, HLA-DRB1, and HLA-DQB1 Gene Polymorphisms in Susceptibility to Tuberculosis among the Chinese Kazakh Population: A Case-Control Study." BioMed Research International 2013 (2013): 1–8. http://dx.doi.org/10.1155/2013/484535.
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Background. To explore the potential role of natural-resistance-associated macrophage protein 1 (NRAMP1) gene, vitamin D receptor (VDR) gene, (human leukocyte antigen, (HLA-DRB1) HLA) -DRB1 gene, and HLA-DQB1 gene polymorphisms in susceptibility to tuberculosis (TB) in the Chinese Kazakh population.Methods. A case-control study was performed on the Chinese Kazak population. Genetic polymorphisms of NRAMP1 gene (3′UTR) and VDR gene (TaqI and FokI) were analysed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing analysis in TB patients and healthy controls. Genetic polymorphisms of HLA-DRB1 gene and HLA-DQB1 gene in the two groups were detected with polymerase chain reaction-sequence-specific primers (PCR-SSPs) technique and sequencing analysis.Results. There was statistically significant difference in the 3′UTR polymorphism between the TB patients and healthy controls in the Chinese Kazak population (P=0.002; OR = 1.859; 95% CI = 1.182–2.926). Significant difference was observed in the FokI polymorphism between the TB patients and healthy controls (P=0.001; OR = 1.530; 95% CI = 1.007–2.325). It does not disclose any significant association between the disease and TaqI (P>0.05). Alleles HLA-DRB1*04 and HLA-DQB1*0201 occurred more frequently in patients than in controls (P=0.011and 0.002; OR = 1.889 and 1.802; 95% CI = 1.153–3.095 and 1.230–2.639, resp.).Conclusions. Polymorphisms in the NRAMP1 gene, VDR gene, HLA-DRB1 gene, and HLA-DQB1 gene are statistically associated with susceptibility to TB in the Chinese Kazakh population.
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Rawool, Anup, Satyaprakash Gupta, Bharti Singh, Shubha R. Phadke, Deepti Saxena, and Kausik Mandal. "Recurrent miscarriage in North Indian population: a study of association of polymorphisms in genes coding for the natural killer: cell receptor natural killer group 2, member D and its ligand MHC class I chain-related protein A." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 9, no. 9 (August 27, 2020): 3665. http://dx.doi.org/10.18203/2320-1770.ijrcog20203837.
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Background: The objective of this present study was to investigate the possible association of natural killer group (NKG) receptors gene polymorphisms and MHC class I chain-related protein A (MICA) gene polymorphism with recurrent spontaneous abortion (RSA).Methods: Three single-nucleotide polymorphism (SNPs) in NKG2D gene (rs2255336, rs2617160 and rs2617170) and one SNP in MICA gene (MICA129) rs1051792 were assessed in 100 controls and 100 patients employing polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and agarose gel electrophoresis.Results: NKG2D (rs2617160) and MICA 129 (rs1051792) variants are associated with RSA risk in North Indian women.Conclusions: The NKG2D and MICA129 gene polymorphisms may influence the success of pregnancy in North Indian women population.
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Riancho, José A., María T. Zarrabeitia, Carmen Valero, Carolina Sañudo, Verónica Mijares, and Jesús González-Macías. "A gene-to-gene interaction between aromatase and estrogen receptors influences bone mineral density." European Journal of Endocrinology 155, no. 1 (July 2006): 53–59. http://dx.doi.org/10.1530/eje.1.02189.
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Objective: The aromatization of androgenic precursors is the main source of estrogens in postmenopausal women. We tested the hypothesis that allelic variants of the genes coding for aromatase and estrogen receptors (ER) could interact to determine the estrogenic signals on the bone tissue and, consequently, bone mineral density (BMD). Design: Cross-sectional study including 331 postmenopausal women. Methods: BMD was measured by dual energy x-ray absorptiometry. A CG polymorphism of the aromatase gene as well as three polymorphisms of ERα (a TA repeat in the promoter region, a C T single nucleotide polymorphism (SNP) in intron 1 and an AG SNP in exon 8) and a CA repeat polymorphism of ERβ were studied. Results: Age, body weight and the aromatase genotype were associated with BMD. Allelic variants of ERβ and the exon 8 of ERα did not show a significant association with BMD. The polymorphisms located on the promoter and intron 1 of ERα interacted strongly with aromatase. Thus, in women TT homozygous for the ERα gene, there was a marked influence of aromatase genotypes on BMD: spine BMD was 0.724±0.027 g/cm2 in women with CC aromatase alleles and 0.926±0.032 g/cm2 in those with GG alleles (P<0.001). Hip BMD in women with CC and GG aromatase genotypes was 0.722±0.020 and 0.842±0.026 g/cm2 respectively (P=0.002). On the contrary, there were no aromatase-related differences in BMD in women with CT/CC alleles of ERα. Similarly, aromatase-related differences in BMD were found in women with short alleles at the promoter region of ERα, but not in those with long alleles. Both ERα polymorphisms were in strong linkage disequilibrium (P<0.001). Conclusion: These results suggest that the interaction between polymorphisms of genes involved in estrogen synthesis and estrogen signaling exerts an important influence on BMD in postmenopausal women, thus helping to explain, in part, its heritable component. Nevertheless, further studies are warranted to confirm this gene-to-gene interaction in other populations.
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Rohsiswatmo, Rinawati, Radhian Amandito, Andiani Wanda Putri, Nilam Sartika, and Amarila Malik. "UGT1A1 gene polymorphisms and jaundice in Indonesian neonates." Paediatrica Indonesiana 59, no. 3 (June 20, 2019): 150–6. http://dx.doi.org/10.14238/pi59.3.2019.150-6.
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Background Uridine diphospho-glucuronocyltransferase 1A1 (UGT1A1) polymorphisms are a risk factor for unconjugated hyperbilirubinemia in neonates. UGT1A1 polymorphisms decrease bilirubin conjugation, thus causing hyperbilirubinemia. A variety of polymorphisms have been reported, with UGT1A1*60 and UGT1A1*6 especially prominent in the Asian population. Hyperbilirubinemia polymorphism studies are lacking in Indonesian populations.
Objective To identify UGT1A1*60 and UGT1A1*6 profiles in Indonesian populations of heterogeneous ethnicity.
Methods We enrolled 42 jaundiced neonates who were born from January to April 2017 and treated in the Neonatal Intensive Care Unit of our national referral center, Cipto Mangunkusumo Hospital, Jakarta, Indonesia. Genetic mutations *60 of exon 1 and *6 of the promoter region were analyzed by polymerase chain reaction – restriction fragment length polymorphism methods, with DraI and AvaII as restriction enzymes, respectively. Clinical data including total serum bilirubin and racial information were obtained by medical records and interviews with parents.
Results There were no homozygous mutations of UGT1A1*6, but 4.8% of subjects were heterozygous. As for UGT1A1*60, 4.8% were heterozygous and 95.2% were homozygous. Racial variations were not observed for UGT1A1*60, while Betawi descendents were found to have many heteroygous forms of UGT1A1*6.
Conclusion Polymorphisms of the UGT1A1 gene were found in Indonesian neonates. Some ethnicities also showed increased tendency towards its incidence, such as the heterozygous form of UGT1A1*6.
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Miguita, K., Q. Cordeiro, R. G. Shavitt, E. C. Miguel, and H. Vallada. "Association study between genetic monoaminergic polymorphisms and OCD response to clomipramine treatment." Arquivos de Neuro-Psiquiatria 69, no. 2b (2011): 283–87. http://dx.doi.org/10.1590/s0004-282x2011000300003.
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In the present paper, we investigated the 5HTTLPR and STin2 polymorphisms in the promoter region of the serotonin transporter gene (SLC6A4), the G861C polymorphism (rs6296) of the serotonin receptor 1D beta (HTR1B), the T102C (rs6113) and C516T (rs6305) polymorphisms of the serotonin receptor gene subtype 2A (HTR2A), the DAT UTR, DAT intron 8 and DAT intron 14 of the dopamine transporter gene (SLC6A3), the Val-158-Met (rs4680) polymorphism of the COMT and the silent mutation G1287A (rs5569) in the norepinephrine transporter gene (SLC6A2). We genotyped 41 obsessive-compulsive disorder (OCD) outpatients, classified as good-responders (n=27) and poor-responders (n=14) to treatment with clomipramine according to the Yale Brown Obsessive-Compulsive Scale (YBOCS). Patients who achieved a reduction in symptoms of 40% or more in YBOCS after 14 weeks of treatment were considered good-responders. Genotypes and alleles distribution of the investigated polymorphisms were compared between both groups. We did not find association between the studied polymorphisms and clomipramine response in our sample.
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Chang, Qing, Zhong-lin He, Yu-chong Peng, Shi-gang Duan, Yu-xin Dai, and Xiao-hui Zhao. "A meta-analysis of MDR1 polymorphisms rs1128503 and rs1045642 and susceptibility to hepatocellular carcinoma." Journal of International Medical Research 47, no. 7 (June 24, 2019): 2800–2809. http://dx.doi.org/10.1177/0300060519855869.
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Objective A relationship between polymorphisms rs1128503 and rs1045642 in the multidrug resistance 1 gene ( MDR1) and susceptibility to hepatocellular carcinoma (HCC) has been reported but is inconclusive. This study was performed to explore the significance of MDR1 polymorphisms rs1128503 and rs1045642 in screening and diagnosis of HCC. Methods Studies of association analyses between MDR1 gene polymorphisms rs1128503 and rs1045642 and HCC were selected from three foreign language databases (PubMed, Cochrane, and Embase) and three Chinese databases (Wanfang, China National Knowledge Infrastructure, and China Knowledge Network) and subjected to meta-analysis. Results We found no significant relationship between the rs1128503 polymorphism and susceptibility to HCC in 4 cohorts and no significant relationship between the rs1045642 polymorphism and susceptibility to HCC in 3 cohorts. Conclusions There was no relationship between polymorphisms rs1128503 or rs1045642 of the MDR1 gene and susceptibility to HCC.
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Novaković, Ivana, Nela Maksimović, Slobodan Cvetković, and Dragana Cvetković. "Gene Polymorphisms as Markers of Disease Susceptibility." Journal of Medical Biochemistry 29, no. 3 (July 1, 2010): 135–38. http://dx.doi.org/10.2478/v10011-010-0022-y.
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Gene Polymorphisms as Markers of Disease SusceptibilityThe most widespread diseases of modern man have a polygenic basis, including genetic predisposition and factors in the external environment. Such is the case with cardiovascular disease, malignancy, diabetes and so on. It should be borne in mind that risk factors usually include disorders that are themselves multifactorial, which further indicates the complexity of pathophysiological mechanisms. In the investigation of genetic factors in polygenic diseases studies are underway to determine the association with specific gene polymorphisms. Genetic or DNA polymorphisms are differences in the hereditary basis which are normally found in human populations. The human genome consists of 3×109nucleotide (base) pairs, and it is considered that, on average, every 1000th nucleotide is polymorphic, i.e. varies between two loci or two individuals. The most common type of gene polymorphisms is the single nucleotide polymorphism (SNP). Although gene polymorphisms are an expression of normal variations in the hereditary basis, their effect on the phenotype is interesting, especially the association with proneness to certain diseases. Association studies examine the incidence of certain genetic variants, i.e. genetic polymorphisms in a group of patients, and compare it with the data of a healthy population. The results are often contradictory, so the number of polymorphisms whose role as markers of genetic predisposition has been clearly confirmed is still small. In this paper we review literature data and present experiences from our laboratory in studying genetic polymorphisms as susceptibility factors for the occurrence of thrombophilia and atherosclerosis and its clinical manifestations.
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Wuyun, Gerile, Yang Hu, Zihong He, Yanchun Li, and Xu Yan. "The Short Tandem Repeat of the DMT1 Gene as a Molecular Marker of Elite Long-Distance Runners." International Journal of Genomics 2019 (November 23, 2019): 1–9. http://dx.doi.org/10.1155/2019/7064703.
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The DMT1 gene encodes divalent metal transporter 1, a membrane iron transport protein. Divalent metal transporter 1 influences cellular iron availability, which might further affect aerobic exercise capacity. Short tandem repeat (STR) polymorphisms have been used as genetic markers in the literature, yet the STR polymorphisms of the DMT1 gene have not been well studied. In this current study, we explored the polymorphisms of the DMT1 gene in a group of elite long-distance runners and controls, by using the PCR-RFLP (Restriction Fragment Length Polymorphism) and Gene scan technology. We found that the genotype frequency of the homozygous 258 bp STR polymorphism of the DMT1 gene (258 bp/258 bp) was significantly higher in the athlete group than in the controls (χ2=14.01, p=0.006) so does the allele frequency of the 258 bp STR polymorphism (χ2=12.867, p=0.008). These data suggested that the STR polymorphism of the DMT1 gene might be correlated with aerobic exercise capacity and the 258 bp homozygous (25 bp/258 bp) could be used as a molecular marker for the talent identification of elite long-distance runners.
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Mehra, Pratishtha, Vimal Mehta, Jamal Yusuf, Rishi Sukhija, and Wilbert Aronow. "Endothelin-1 gene and endothelin receptor A gene polymorphisms in severe pulmonary hypertension associated with rheumatic mitral valve disease." Archives of Medical Science 18, no. 1 (January 17, 2022): 260–66. http://dx.doi.org/10.5114/aoms/144630.
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IntroductionEndothelin-1 (ET-1) gene polymorphisms are implicated in pathogenesis of idiopathic pulmonary arterial hypertensionMaterial and methodsWe studied ET-1 (Lys198Asn and 3A/4A) and endothelin receptor A (ETA) gene (His323His) polymorphisms in 123 subjects with pulmonary hypertension associated with rheumatic mitral valve disease (PH-MVD) and 123 healthy controls.ResultsThe mutant homozygous Asn/Asn genotype in Lys198Asn and T/T genotype in His323His polymorphism was more prevalent in PH-MVD group. Presence of Asn/Asn genotype was significantly associated with increased risk (odds ratio 3.9).ConclusionsET-1 and ET<sub>A</sub> gene polymorphisms are prevalent in PH-MVD group suggesting that they may predispose to the development of PH.
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Wróbel-Dudzińska, Dominika, Ewa Kosior-Jarecka, Urszula Łukasik, Janusz Kocki, Agnieszka Witczak, Jerzy Mosiewicz, and Tomasz Żarnowski. "Risk Factors in Normal-Tension Glaucoma and High-Tension Glaucoma in relation to Polymorphisms of Endothelin-1 Gene and Endothelin-1 Receptor Type A Gene." Journal of Ophthalmology 2015 (2015): 1–12. http://dx.doi.org/10.1155/2015/368792.
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The aimof the research is to analyse the influence of polymorphisms of endothelin-1 gene and endothelin-1 receptor type A gene on the clinical condition of patients with primary open angle glaucoma.Methods. 285 Polish patients took part in the research (160 normal-tension glaucoma and 125 high-tension glaucoma). DNA was isolated by standard methods and genotype distributions of four polymorphisms in genes encoding endothelin-1 (K198N) and endothelin-1 receptor type A polymorphisms (C1222T, C70G, and G231A) were determined. Genotype distributions were compared between NTG and HTG groups. The clinical condition of participants was examined for association with polymorphisms.Results. A similar frequency of occurrence of the polymorphic varieties of the studied genes was observed in patients with NTG and HTG. There is no relation between NTG risk factors and examined polymorphisms. NTG patients with TT genotype of K198N polymorphism presented with the lowest intraocular pressure in comparison to GG + GT genotype (p=0.03). In NTG patients with CC genotype of C1222T polymorphism (p=0.028) and GG of C70G polymorphism (p=0.03) the lowest values of mean blood pressure were observed.Conclusions. The studied polymorphic varieties (K198N, C1222T) do have an influence on intraocular pressure as well as arterial blood pressure in NTG patients.
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Kazakov, R. E., R. A. Chilova, K. O. Akopov, and E. A. Sokova. "ADRB2 gene polymorphism and preterm labor." Pharmacogenetics and Pharmacogenomics, no. 1 (January 7, 2022): 9–17. http://dx.doi.org/10.37489/2588-0527-2021-1-9-17.
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This article discusses issues related to the role of polymorphism of the ADRB2 gene encoding β2-adrenergic receptor in preterm labor and tocolysis. Information is provided on scientific studies related to the search for associations of the carriage of alleles and genotypes of ADRB2 with the preterm labor, as well as with the pharmacological response to tocolytic therapy using β2-adrenergic agonists. The history of the discovery of the relationship of ADRB2 gene polymorphisms with preterm labor is presented in chronological order. As scientific facts emerge, researchers are faced with the question: how can ADRB2 gene polymorphisms affect physiological processes? That is, whether they affect by changing the primary structure of the receptor or by changing the level of expression. Depending on the answer to this question, pharmacogenetics are faced with a further task: what to study - individual polymorphisms or haplotypes?
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Piórkowska, Katarzyna, Joanna Nowak, Katarzyna Połtowicz, and Katarzyna Ropka-Molik. "New Polymorphisms in Regulatory Region of CAPN3 Gene with no Effect on Gene Expression in Breast Muscle of Broiler Chickens." Annals of Animal Science 14, no. 3 (July 29, 2014): 511–24. http://dx.doi.org/10.2478/aoas-2014-0032.
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AbstractCalpains are enzymes that belong to calcium-dependent, non-lysosomal cysteine proteases. The CAPN3 gene encodes a major intracellular specific muscle protease with a high capacity for degradation of cytoskeletal and muscle fibre proteins. Therefore, they play an important role in fusion of myoblasts, proliferation, cell growth and migration. In chickens, the gene encoding for calpain 3 is localized on chromosome 5. Due to the function of encoded protein, the CAPN3 has beenchosen as a candidate gene for meat quality in chickens. Consequently, the aim of our study was to identify new polymorphisms in the regulatory region of CAPN3 gene and to investigate their impact on CAPN3 transcript abundance in breast muscles. The experiment used broilers of two genetic lines: fast- and slow-growing. The polymorphisms were identified by screening with High Resolution Melting (HRM) and sequencing based on the Sanger method. The CAPN3 gene expression was conducted by using succinate dehydrogenase complex, subunit A (SDHA) and 60S ribosomal protein L4 (RPL4) genes as endogenous controls. Four new polymorphisms were found: g.322176G>A in promoter region (GenBank: AADN03004661.1), c.176*C>T, c.144*G>C and c.137*_147*delCAGCCCTGCTT in 3`UTR sequence. The new polymorphisms were identified by using restriction enzymes ScrFI, BslI, AcuI, HpyAV, respectively. The frequency of polymorphisms found in 3`UTR region was similar in both lines. According to polymorphisms identified in 3`UTR region the alleles with deletion, C and C (c.137*_147*del, c.144*G>C and c.176*C>T) were rare. The polymorphism identified in the promoter region and 3`UTR regions changed a few binding sites for transcription factors, but did not alter any binding sites for the other important translation regulators such as miRNA. Analysis of the effect of new polymorphisms on CAPN3 gene expression showed that in fast-growing line the chickens with GG genotype according to polymorphism g.322176G>A inthe promoter region, were characterized by the highest CAPN3 transcript abundance. Other polymorphisms in 3>UTR region seem to have no effect on CAPN3 gene expression.
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Hou, Hai-Feng, Xu Jin, Tao Sun, Cheng Li, Bao-Fa Jiang, and Qun-Wei Li. "Cytotoxic T Lymphocyte-Associated Antigen 4 Gene Polymorphisms and Autoimmune Thyroid Diseases: An Updated Systematic Review and Cumulative Meta-Analysis." International Journal of Endocrinology 2015 (2015): 1–9. http://dx.doi.org/10.1155/2015/747816.
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The association of the cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) gene and susceptibility to autoimmune thyroid diseases (AITDs) has been studied extensively. However, the results were not the same in different ethnic groups. We updated the meta-analysis of association of CTLA-4 gene polymorphisms with AITDs and summarized the results in specific ethnicity. The associations of A49G gene polymorphism with GD, A49G gene polymorphism with HT, CT60 gene polymorphism with GD, and CT60 gene polymorphism with HT were summarized based on the literatures published up to October 30, 2014, in English or Chinese languages. The participants involved in the studies of A49G with GD, A49G with HT, CT60 with GD, and CT60HT were 39004 subjects (in 51 studies), 13102 subjects (in 22 studies), 31446 subjects (in 22 studies), and 6948 subjects (in 8 studies), respectively. The pooled ORs of CTLA-4 gene polymorphisms with AITDs were larger than 1.00, and the 95% CIs of ORs were statistically significant among whole population analyses. However, the subgroup analysis demonstrated that pooled ORs of A49G polymorphisms with GD among Africans or Americans are less than 1.00. The accumulated evidence suggests that the G allele mutant of A49G and CT60 increased the risks of HT and GD.
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Li, Xiaoyan, Jie He, and Jian Sun. "LOXL1 gene polymorphisms are associated with exfoliation syndrome/exfoliation glaucoma risk: An updated meta-analysis." PLOS ONE 16, no. 4 (April 28, 2021): e0250772. http://dx.doi.org/10.1371/journal.pone.0250772.
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Background Single nucleotide polymorphisms (SNPs) in the gene encoding LOXL1 are risk factors for exfoliation syndrome and exfoliation glaucoma. This meta-analysis comprehensively investigated the association between LOXL1 gene polymorphisms (rs1048661, rs3825942, and rs2165241) and the risk of exfoliation syndrome/exfoliation glaucoma (XFS)/(XFG). Methods All eligible case-control studies, published before August 17, 2020, were searched on Medline (Ovid), PubMed, CNKI, EMBASE, and Wanfang databases. Results In total, 5022 cases and 8962 controls were included in this meta-analysis. Significant associations between LOXL1 gene polymorphisms and XFS/XFG risk was observed in the disease types-based subgroups. In addition, in the subgroup analysis of ethnicity, positive associations between LOXL1 gene polymorphisms (rs1048661, rs3825942, and rs2165241) and XFS/XFG risk were found in Caucasians. Furthermore, rs1048661 and rs3825942 polymorphisms were related to XFS/ XFG risk in Asians; however, no significant association was observed between the LOXL1 gene rs2165241 polymorphism and XFS/XFG risk in Asians. In addition, rs1048661 and rs3825942 correlated with XFS/XFG susceptibility in Africans. Conclusions Our results implicate LOXL1 gene polymorphisms as XFS/XFG risk factors, especially in Caucasians.
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Malakoutian, Tahereh, Bahareh Madadi, and Ahmad Ebrahimi. "Evaluation of common polymorphisms of eNOS gene and ACE gene in autosomal dominant polycystic kidney disease patients and their association with hypertension and renal failure." Journal of Renal Injury Prevention 10, no. 1 (November 29, 2019): e04-e04. http://dx.doi.org/10.34172/jrip.2021.04.
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Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most hereditary renal disease that leads to end-stage renal disease (ESRD). Objectives: Since there is no available parameter to assess the clinical course of ADPKD and its outcome, yet, the aim of our study was evaluation of the association of common polymorphisms of eNOS and ACE genes with clinical manifestations (kidney failure and hypertension) in ADPKD. Patients and Methods: Seventy-five ADPKD patients and 100 control subjects participated in our study. Around 7.5 cc of whole blood was taken from each participant and sent to the genetic laboratory. DNA was obtained from them by the phenol chloroform extraction and ethanol precipitation techniques. Then genotyping for I/D polymorphism of ACE gene and Glu298 ASP and T786C polymorphisms of eNOS gene was performed by PCR electrophoresis and molecular evaluation by special primers for two genes. Results: The frequency of DD polymorphism of ACE gene and TC polymorphism of T786C of eNOS were considerably elevated in ADPKD individuals than control subjects. No significant difference between groups regarding Glu298 ASP polymorphisms of eNOS gene was detected. In ADPKD patients, 29 patients (39%) had hypertension, 5 patients (6.7%) had diabetes and 43 patients (57%) had glomerular filtration rate (GFR) below 60 mL/min/1.73 m2 . The polymorphisms of ACE and eNOS genes were not meaningfully different regarding diabetes, high blood pressure, GFR and plasma creatinine in ADPKD individuals (P>0.05). Conclusion: In our study, we could not find any association between polymorphisms of ACE and eNOS genes with renal insufficiency and hypertension in ADPKD patients.
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Ak, Duygu Gezen, Hakkí Kahraman, Erdinç Dursun, Belgin Süsleyici Duman, Nevin Erensoy, Faruk Alagöl, Refik Tanakol, and Selma Yılmazer. "Polymorphisms at the Ligand Binding Site of the Vitamin D Receptor Gene and Osteomalacia." Disease Markers 21, no. 4 (2005): 191–97. http://dx.doi.org/10.1155/2005/645260.
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Vitamin D receptor (VDR) gene polymorphisms have been suggested as possible determinants of bone mineral density (BMD) and calcium metabolism. In this study, our aim was to determine whether there is an association between VDR gene polymorphism and osteomalacia or not. We determined ApaI and TaqI polymorphisms in the vitamin D receptor gene in 24 patients with osteomalacia and 25 age-matched healthy controls. Serum calcium, phosphorus, ALP, PTH, 25OHD levels were also examined. We used PCR and RFLP methods to test for an association between osteomalacia and polymorphisms within, intron 8 and exon 9 of the VDR gene. When the control and patients were compared for their ApaI and TaqI genotypes there was no relationship between VDR gene allelic polymorphisms and osteomalacia. Whereas a nearly significant difference for A allele was found in the allellic distribution of the patients (p= 0.08). Also no association between biochemical data and VDR gene polymorphisms was observed.
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Sorokina, E. Yu, A. V. Pogozheva, and D. B. Nikityuk. "Study of the association of gene polymorphism with the risk of non-communicable diseases in martial artists." Sports medicine: research and practice 11, no. 2 (September 22, 2021): 25–33. http://dx.doi.org/10.47529/2223-2524.2021.2.5.
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Objective: to study the effect of genetic polymorphisms: rs rs9939609 (FTO gene), rs4994 (ADRB3 gene), rs1042713 (ADRB2 gene), rs2228570 (VDR gene), rs1801133 (MTHFR gene) on anthropometric and lipid metabolism indicators in athletes representing martial arts.Materials and methods: studies of anthropometric and biochemical parameters, genetic polymorphisms were carried out in 120 athletes (101 men and 19 women) who are engaged in martial arts. Anthropometric studies were performed by measuring height (cm), body weight (kg), followed by calculating body mass index (BMI, kg / m2). Biochemical nutritional status markers were determined using the ABX Pentra 400 analyzer (HORIBA ABX SAS, France) in an automatic mode. Genotyping was performed using allelespecific amplification using TaqMan probes complementary to polymorphic DNA regions and realtime detection of the results using reagent kits from Syntol, Russia. Studies were performed on the device CFX96 Real Time System (BioRad, USA). Statistical processing of the results was performed using the PASW Statistics 20 system.Results: as a result of generic Diovan athletes martial artists on the risk of noncommunicable diseases, discovered that the frequency of allele A of rs9939609 polymorphism of the FTO gene they have is 43.9 %, allele polymorphism rs4994 ADRB3 gene — 10.9 %, G allele of rs1042713 ADRB2 gene polymorphism — 52.6 %, G allele of the polymorphism rs2228570 VDR gene with 44.9 % and allele t of rs1801133 in the MTHFR gene to 36.7 %. An association was found between the value of anthropometric indicators in male martial artists and the presence of polymorphisms rs9939609 (FTO), rs1042713 (ADRB2) and rs2228570 (VDR).Conclusions: the reason for the identified dyslipidemia in martial artists may be not only the previously detected violations of the structure of their nutrition, but also the presence of certain genetic polymorphisms, in particular, rs4994 of the ADRB3 gene and rs1042713 of the ADRB2 gene.
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Tantsura, Lyudmyla, Olena Pylypets, Yevhen Tantsura, and Dmytro Tretiakov. "Possibilities of optimizing approaches to the treatment of resistant epilepsy in children using pharmacogenetic studies data." Ukrains'kyi Visnyk Psykhonevrolohii 27, no. 3 (September 5, 2019): 92–96. http://dx.doi.org/10.36927/2079-0325-v27-is3-2019-18.
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We conducted an observation of 83 children with therapy-resistant forms of epilepsy between the ages of 11 months and 18 years. The presence of CYP2C9, CYP2C19 and CYP3A4 gene polymorphisms was detected in 60 of the examined patients, that is, 72.29 % of them, 33 patients (39.76 %) had CYP2C19 gene polymorphisms, CYP2C9 gene polymorphisms had 17 (20.48 %) children, and 10 (12.05 %) of them had CYP3A4 gene polymorphisms. The frequency of CYP2C19*2 and CYP3A4*1B polymorphisms was signifi cantly higher than in the Ukrainian and other European populations, no statistical data signifi - cance of differences in the frequency of CYP2C9 gene polymorphisms compared with the Ukrainian population was found. CYP2C19 gene polymorphisms are signifi cantly more frequently recorded by us compared to the results obtained by researchers in Russia and Turkey in closely related studies. It is shown that children with cytochrome P450 gene polymorphisms are recommended: more frequent clinical, instrumental, and laboratory monitoring of patients to prevent side eff ects of therapy; monitoring (not a one-time study) of AED concentration in blood plasma. The necessity of conduction of pharmacogenetic research at the stage of debut of epilepsy in the case of suspicion of treatment-resistant form of the disease and in the case of ineffi - ciency or severe side eff ects of the fi rst assigned AED was demonstrated. Key words: children, treatment, resistant epilepsy, cytochrome P450, gene polymorphism.
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Apu, Mohd Nazmul Hasan, Most Nasrin Aktar, Md Morshadur Rahman, and Md Shaki Mostaid. "Association of TGFB1 gene polymorphisms with cervical cancer in Bangladeshi women: A case-control study." Tumor Biology 43, no. 1 (April 27, 2021): 27–35. http://dx.doi.org/10.3233/tub-200061.
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OBJECTIVES: Genetic susceptibility to cervical cancer in relation to transforming growth factor beta 1 (TGFB1) gene polymorphisms has not been investigated extensively among the women in Bangladesh. So, the aim of this study was to find out the correlation of the polymorphisms of TGFB1 C509T (rs1800469) and T869C (rs1800470) with the risk of cervical cancer among the Bangladeshi women. STUDY DESIGN: 134 cervical cancer patients and 102 age-sex matched healthy controls were included from two institutions in Bangladesh. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping two TGFB1 single nucleotide polymorphisms C509T (rs1800469) and T869C (rs1800470) in patients and controls. RESULTS: No significant correlation was found between polymorphisms C509T (rs1800469) and T869C (rs1800470) of TGFB1 gene with cervical cancer in Bangladeshi women. In case of the cervical cancer patients who had first degree relatives with cancer were prone to carry the polymorphic version of the TGFB1 gene polymorphism at C509T (OR = 5.597, 95% CI = 1.224–25.597, p < 0.05) but may not result in the increase of developing cervical cancer. CONCLUSION: In summary, two polymorphisms C509T and T869C of TGFB1 gene may not be associated with cervical cancer risk in Bangladeshi women.
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S.T., Raza, Abbas S., Ahmad A., Ahmed F., Zaidi Z.H., and Mahdi F. "Association of Glutathione-S-Transferase (GSTM1 and GSTT1) and FTO Gene Polymorphisms with Type 2 Diabetes Mellitus Cases in Northern India." Balkan Journal of Medical Genetics 17, no. 1 (June 1, 2014): 47–54. http://dx.doi.org/10.2478/bjmg-2014-0027.
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Abstract Type 2 diabetes mellitus (T2DM) is growing in an epidemic manner across the world and India has the world’s largest number of diabetic subjects. The present study was carried out to investigate the association of glutathione-S-transferase (GSTM1, GSTT1) and fat mass and obesity associated (FTO) gene polymorphisms with T2DM patients and controls, and its role in increasing the susceptibility to T2DM. A total of 198 subjects (101 T2DM patients and 97 controls) participated in this study. GSTM1, GSTT1 and FTO gene polymorphisms in the patients and controls were evaluated by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). We observed significant association of GSTM1 positive (p = 0.046) and GSTM1 null (p = 0.046) genotypes with T2DM, while no significant association was found with the FTO gene polymorphism in our study. It seems that the GSTM1 gene polymorphism can be a predictive marker for early identification of a population at risk of T2DM. The potential role of GST and FTO gene polymorphisms as a marker of susceptibility to T2DM needs further studies in a larger number of patients.
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Herman, Darja, Polona Peternel, Mojca Stegnar, Katja Breskvar, and Vita Dolzan. "The influence of sequence variations in factor VII, γ-glutamyl carboxylase and vitamin K epoxide reductase complex genes on warfarin dose requirement." Thrombosis and Haemostasis 95, no. 05 (2006): 782–87. http://dx.doi.org/10.1160/th05-10-0678.
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SummaryThe degree of interpatient variability in the warfarin dose required to achieve the desired anticoagulant response can only partly be explained by polymorphisms in the CYP2C9 gene, suggesting that additional genetic factors such as polymorphisms in genes involved in blood coagulation may influence warfarin dose requirement. In total, 165 Caucasian outpatients on stable maintenance warfarin treatment previously genotyped for CYP2C9 were analysed for common polymorphisms in FVII, GGCX and VKORC1 genes. The -402G>A polymorphism and a variable number of repeats in intron 7 of FVII gene did not significantly influence warfarin dose.The mean warfarin doses increased with the number of (CAA) repeats in the GGCX gene, but the differences were significant only in the CYP2C9*1/*1 subgroup of patients (p=0.032). Common polymorphism (6484C>T) in intron 1 of the VKORC1 gene led to lower warfarin dose requirement; the means were 5.70 (95% C.I. 4.95 - 6.45), 3.49 (3.07 - 3.90) and 2.11 (1.80 - 2.42) mg/day for 6484 CC, CT and TT genotypes, respectively (p<0.001). In contrast, 9041G>A polymorphism in 3’UTR of theVKORC1 gene led to higher warfarin dose requirement; the means were 3.09 (2.58 - 3.60), 4.26 (3.69 - 4.82) and 5.86 (4.53 - 7.19) mg/day for 9041 GG, GA and AA genotypes, respectively (p<0.001).With a regression model we explained 60.0% of variability in warfarin dose, which was due to gene polymorphisms (CYP2C9,VKORC1), age and body-surfacearea. When aiming for individualised warfarin therapy, at least VKORC1 polymorphisms should be included in predictive genotyping besides CYP2C9.
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Taneja, Nancy, Rajesh Khadagawat, and Shalini Mani. "BSMI AND TAQI POLYMORPHISMS IN VITAMIN D RECEPTOR GENE OF TYPE 2 DIABETES MELLITUS PATIENTS FROM NORTH INDIA." Asian Journal of Pharmaceutical and Clinical Research 9, no. 9 (December 1, 2016): 186. http://dx.doi.org/10.22159/ajpcr.2016.v9s3.14875.
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ABSTRACTObjective: Polymorphisms in vitamin D receptor (VDR) genes are known to be linked with different metabolic diseases including Type 2 diabetesmellitus (T2DM) also. However, the association of these polymorphisms is not much explored for the Indian population. To determine the prevalenceof BsmI and TaqI polymorphism in VDR gene of T2DM patients from North India.Methods: Blood samples were obtained from 100 well-characterized T2DM patients and 100 healthy controls. Genomic DNA was isolated from bloodsamples and using polymerase chain reaction/restriction fragment length polymorphism based method, the presence of these polymorphisms wasinvestigated in these samples. The data were statistically analyzed using SPSS 21.0 software.Results: For TaqI polymorphism, both the wild type (TT) and heterozygous (TC) genotype showed a significant difference between patients andcontrols (p=0.023 and p<0.001, respectively). Whereas, the frequency of CC genotype was not significantly different among these groups (p=0.506).For BsmI polymorphism also, the frequency of wild type (GG) and heterozygous (GA) genotype was significantly different in patients and controls(p=0.027 and p=0.001), respectively. However, the frequency of AA genotype was not of statistical significance in patients (p=0.071).Conclusions: The mutant alleles of TaqI and BsmI polymorphisms are known to be associated with different metabolic diseases, including diabetestoo. In our study also, there is a significant difference between the frequency of wild type and heterozygous genotype for these polymorphisms. Thissuggests that BsmI and TaqI polymorphisms may be associated with T2DM patients.Keywords: Type 2 diabetes mellitus, Polymorphism, Vitamin D receptor, Patient, Control, Restriction fragment length polymorphism.
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Guldiken, Baburhan, Tammam Sipahi, Remziye Tekinarslan, Levent Kabayel, Hulya Ozkan, Ayhan Unlu, Bilge Eren Yamasan, Tulay Okman-Kilic, and Nilda Turgut. "Calcitonin Gene Related Peptide Gene Polymorphism in Migraine Patients." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 40, no. 5 (September 2013): 722–25. http://dx.doi.org/10.1017/s0317167100014980.
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Abstract:Objective:Calcitonin gene related peptide (CGRP), which has a vasodilator effect, is held responsible for neurogenic inflammation and vasodilatation of the cranial vessels in migraine pathophysiology. In this study, we investigated the association between alpha CGRP gene polymorphism (CALCA T-692C) and migraine.Material and Methods:One hundred and thirty-four female migraineurs and 96 healthy female cases were enrolled in the study. The patient group was further subdivided into migraine with and without aura groups. The CALCA T-692C gene polymorphism was identified using polymerase chain reaction (PCR) technique and restriction fragment length polymorphism (RFLP).Results:The genotype and allele frequencies of CALCA T-692C gene polymorphism did not differ between the migraine and control groups. Between the migraine with and without aura subgroups, there was no difference. No association was seen between the CALCA T-692C gene polymorphisms and migraine attack severity and frequency.Conclusion:Our study did not show any association between CALCA T-692C gene polymorphism and migraine.
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Siddique, Imad, K. Scott Brimble, Louise Walkin, Angela Summers, Paul Brenchley, Sarah Herrick, and Peter J. Margetts. "Genetic Polymorphisms and Peritoneal Membrane Function." Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis 35, no. 5 (September 2015): 517–29. http://dx.doi.org/10.3747/pdi.2014.00049.
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BackgroundOutcomes for peritoneal dialysis (PD) patients are affected by the characteristics of the peritoneal membrane, which may be determined by genetic variants. We carried out a systematic review of the literature to identify studies which assessed the association between genetic polymorphisms, peritoneal membrane solute transport, and clinical outcomes for PD patients.MethodsThe National Library of Medicine was searched using a variety of strategies. Studies which met our inclusion criteria were reviewed and data abstracted. Our outcomes of interest included: high transport status peritoneal membrane, risk for peritonitis, encapsulating peritoneal sclerosis (EPS), patient and technique survival. We combined data from studies which evaluated the same genetic polymorphism and the same outcome.ResultsWe evaluated 18 relevant studies. All studies used a candidate gene approach. Gene polymorphisms in the interleukin (IL)-6 gene were associated with peritoneal membrane solute transport in several studies in different ethnic populations. Associations with solute transport and polymorphisms in endothelial nitric oxide synthase and receptor for advanced glycation end product genes were also identified. There was evidence of a genetic predisposition for peritonitis found in 2 studies, and for EPS in 1 study. Survival was found to be associated with a polymorphism in vascular endothelial growth factor and technique failure was associated with a polymorphism in the IL-1 receptor antagonist.ConclusionsThere is evidence that characteristics of the peritoneal membrane and clinical outcomes for PD patients have genetic determinants. The most consistent association was between IL-6 gene polymorphisms and peritoneal membrane solute transport.
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Carminati, Christiane Ruffato, Anna Cecília Dias Maciel Carneiro, Andrezza Cristina Cancian Hortolani da Cunha, Loren Queli Pereira, Fernanda Bernadelli De Vito, Marcos Vinicíus da Silva, Virmondes Rodrigues Júnior, et al. "Relation of TGF-β1 gene with the prognosis of patients with Covid-19." Research, Society and Development 11, no. 15 (November 8, 2022): e03111536658. http://dx.doi.org/10.33448/rsd-v11i15.36658.
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This study aimed to investigate the role of the TGF-β1 gene in SARS-CoV-2 infection. A total of 178 individuals diagnosed with Covid-19 participated and, they were divided in two groups related to the outcome (discharge or death). Genotyping of rs1800468 and rs1800469 polymorphisms of TGF-β1 gene was performed in 178 samples, using the allelic discrimination technique and, gene expression analysis was performed in 93 samples by Real Time PCR. There was no association between the genotypic frequencies of TGF-β1 gene polymorphisms analyzed with the prognosis of patients with Covid-19. There was no significant difference between gene expression and the clinical data evaluated. A statistically significant difference was observed in the expression of the TGF-β1 gene between the CT and TT genotypes of the rs1800469 polymorphism, with lower gene expression in the presence of the TT genotype. Regarding the rs1800468 polymorphism, no statistically significant difference was observed in the expression of the TGF-β1 gene in relation to the analyzed genotypes. The present study concluded that the rs1800468 and rs1800469 polymorphisms of the TGF-β1 gene are not associated with the prognosis of patients with Covid-19 and which the TT genotype of the rs1800469 polymorphism reduces the expression of TGF-β1.
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Lin, Ching-Hsiung, Po-Jen Yang, Sheng-Hao Lin, Kun-Tu Yeh, Thomas Chang-Yao Tsao, Yu-En Chen, Shu-Hui Lin, and Shun-Fa Yang. "Association between EGFR Gene Mutation and Antioxidant Gene Polymorphism of Non-Small-Cell Lung Cancer." Diagnostics 10, no. 9 (September 14, 2020): 692. http://dx.doi.org/10.3390/diagnostics10090692.
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EGFR mutation status is considered as an important predictor of therapeutic responsiveness in non-small-cell lung carcinoma patients. Recent evidence suggests that antioxidant gene polymorphisms are potential predictors of lung cancer risk. Thus, stratification of EGFR mutation-related phenotypes by antioxidant gene polymorphism status can be an effective approach in terms of improving the prognosis of lung cancer patients. The present study was designed to evaluate the distribution frequency of antioxidant gene polymorphisms in lung adenocarcinoma, as well as its association with hotspot EGFR mutations. The study findings revealed that a statistically significant association exists between EGFR L858R mutation and AG + GG genotypes of SOD rs4880 polymorphism. Furthermore, the subgroup analysis data revealed that compared to AA genotype of SOD rs4880, AG + GG genotypes were significantly associated with advanced cancer stage and distant metastasis. Taken together, these findings can be utilized clinically to predict cancer aggressiveness, metastatic, potential and therapeutic responsiveness of lung cancer patients.
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Sufiawati, Irna, Risti Saptarini, and Eriska Riyanti. "HUBUNGAN POLIMORFISME GEN RESEPTOR ESTROGEN ALFA DENGAN JUMLAH SEL T CD4+ PADA ANAK TERINFEKSI HIV." ODONTO : Dental Journal 4, no. 2 (December 1, 2017): 94. http://dx.doi.org/10.30659/odj.4.2.94-100.
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Background: Estrogen plays a key role in human physiological processes. Polymorphisms of estrogen receptors have been implicated in the development of numerous diseases. The aim of this study was to evaluate the frequency of ERα gene Pvull and Xbal polymorphisms and assessing their association with CD4+ T-cell counts in HIV-infected children on highly active antiretroviral therapy.Methods: CD4+ T cell counts were determined using the FACS count system. ERα PvuII and XbaI polymorphisms were analyzed by PCR-RFLP.Results: This study enrolled 34 HIV-infected children on HAART. The frequencies of the PvuII and XbaI gene polymorphisms were PP 41,2%, Pp 26,5%, pp 32,4% and XX 35,3%, Xx 17,6%, xx 47,1% respectively. CD4+ T-cell counts were significantly associated with XbaI polymorphisms (p<0.05), but not PvuII polymorphisms (p>0.01).Discussion: Host genetic factor polymorphism is an important determinant of HIV disease progression and treatment response. The ERα Pvull and Xbal polymorphisms can increase risk for the development of HIV-related complication,including oral diseases.Conclusion: The ERα gene XbaI polymorphism was significantly associated with CD4+ T-cell counts. It may explain the role of estrogen in the regulation of HIV replication. Studying human genetic variation in HIV-infected individuals is important to guide a new therapeutic approach.
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Aidinidou, L., A. Chatzikyriakidou, A. Giannopoulos, V. Karpa, I. Tzimou, E. Aidinidou, and L. Fidani. "Association of NFKB1, NKX2-5, GATA4 and RANKL gene polymorphisms with sporadic congenital heart disease in Greek patients." Balkan Journal of Medical Genetics 24, no. 1 (June 1, 2021): 15–20. http://dx.doi.org/10.2478/bjmg-2021-0014.
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Abstract Congenital heart disease (CHD) is a group of structural defects of the heart and the great vessels, and one of the leading causes of death among infants and young adults. Several gene variants are involved in diverse mechanisms of cardiac and vessel development and could thus be considered candidate mutated genes for a congenital heart defect or a specific variant could predispose a person to CHD. In the present study, variants in four such genes are investigated for the first time in a group of young Greek CHD patients: the NFKB1 gene polymorphism (–94ins/ delATTG), rs28362491, NKX2-5 gene polymorphism rs2277923, GATA4 gene polymorphism rs11785481 and RANKL gene polymorphism rs4531631. A total of 43 CHD patients and 100 healthy adults were included in the study. The polymerase chain reaction-restriction fragment length polymorphism (PRC-RFLP) method was used to genotype the aforementioned polymorphisms of NFKB1, NKX2-5, GATA4 and RANKL. The association analysis identified that there was a protective association between CHD and the A allele of rs2277923 polymorphism (p = 0.004). The D allele of the rs28362491 polymorphism is also a likely risk factor for causing CHD (p = 0.006). The differences of the rs4531631 and rs11785481 variant contribution had no statistical significance between the groups (p >0.05). In conclusion, our results revealed that the rs28362491 and rs2277923 gene polymorphisms, but not the rs4531631 and rs11785481 polymorphisms, may contribute to CHD risk in a cohort of Greek CHD patients.
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Milovac, Irina, Vanja Vidović, Jasmin Ramić, Naida Lojo-Kadrić, Maida Hadžić, Zoran Mavija, Stojko Vidović, and Lejla Pojskić. "Identification of gene candidates associated with Irritable bowel syndrome." Scripta Medica 53, no. 4 (2022): 327–31. http://dx.doi.org/10.5937/scriptamed53-39890.
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Background/Aim: Irritable bowel syndrome (IBS) belongs to the gastrointestinal disorders characterised by abdominal discomfort and pain, altered constipation, diarrhoea and stomach distension. The aim was to assess relationship between the selected genetic polymorphisms with IBS, their combined genotype effect as well as to assess a difference in the distribution of allele and genotype frequencies of selected loci between case and control group. Methods: This was a prospective study which included 29 participants, 20 individuals diagnosed with IBS based on Rome III criteria and 9 healthy individuals. The study analysed the selected genetic polymorphisms as possible risk factors for IBS according to the model of the case-control study. Genotyping was performed for FKBP5, DRD2 and DAT polymorphisms qualified as risk factors for IBS in previous researches. Results: The results revealed a significant association between DAT polymorphism with IBS, both, at the allelic level (p = 0.006) and genotype level (p = 0.031). Individuals with 434 allelic variant in the genotype have six time higher probability for developing IBS, in comparison to the individuals without this allelic variant. The statistical association between other analysed polymorphism and IBS was not reached. The analysis of combined effects of selected polymorphisms revealed no association with IBS, except FKBP5 and DAT which result was at the level of statistical significance (p = 0.05). Conclusion: Further analysis which would include DAT polymorphism with larger sample size, as well as other genes involved in dopamine neurotransmitter system would be of great interest to define closer conclusion of IBS aetiology.