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Journal articles on the topic 'The polymorphism of genes'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

Pradhan, Devina, Tarang Mehta, Arpita Srivastava, et al. "Evaluation of the Importance of Genetic Polymorphisms in Genes Expressing Cancer-Metabolizing Enzymes (Cyp1a1 and Gstm1) in Oral Submucous Fibrosis." Journal of Pharmacy and Bioallied Sciences 16, Suppl 3 (2024): S2785—S2787. http://dx.doi.org/10.4103/jpbs.jpbs_413_24.

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ABSTRACT Background: Genetic polymorphisms are common and contribute significantly to human illnesses. Aim: This study was carried out to evaluate the importance of genetic variations in the genes expressing cancer-metabolizing enzymes (CYP1A1 and GSTM1) in individuals experiencing oral submucous fibrosis (OSMF). Methods and Materials: Based on the clinical and histological characteristics of OSMF, 40 patients were chosen for the study; 10 of these patients had considerable polymorphism and malignant transformation; therefore, they were placed in a different group. After receiving written agre

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Ravel, Catherine, Sébastien Praud, Alain Murigneux, et al. "Single-nucleotide polymorphism frequency in a set of selected lines of bread wheat (Triticum aestivum L.)." Genome 49, no. 9 (2006): 1131–39. http://dx.doi.org/10.1139/g06-067.

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Information on single-nucleotide polymorphisms (SNPs) in hexaploid bread wheat is still scarce. The goal of this study was to detect SNPs in wheat and examine their frequency. Twenty-six bread wheat lines from different origins worldwide were used. Specific PCR-products were obtained from 21 genes and directly sequenced. SNPs were discovered from the alignment of these sequences. The overall sequence polymorphism observed in this sample appears to be low; 64 single-base polymorphisms were detected in ~21.5 kb (i.e., 1 SNP every 335 bp). The level of polymorphism is highly variable among the di

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Beglova, A. Yu, S. I. Yelgina, N. V. Artymuk, and L. A. Gordeeva. "Polymorphisms of cytochrome genes in women with polycystic ovary syndrome." Fundamental and Clinical Medicine 4, no. 3 (2019): 8–14. http://dx.doi.org/10.23946/2500-0764-2019-4-3-8-14.

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Aim. To study the polymorphisms of CYP11A1, CYP17A1, and CYP19A1 genes in women with polycystic ovary syndrome (PCOS) of reproductive age in comparison with women without PCOS.Materials and Methods. We consecutively recruited 94 women with polycystic ovary syndrome of reproductive age and 94 age-matched healthy women. All patients were subjected to molecular genetic analysis of pentanucleotide ((tttta)n) polymorphism at -528 position within the promoter region of the CYP11A1 gene, rs743572 polymorphism within the CYP17A1 gene, and rs2470152 polymorphism within the CYP19A1 gene. We further comp

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Härtel, Christoph, Sören von Otte, Julia Koch, et al. "Polymorphisms of haemostasis genes as risk factors for preterm delivery." Thrombosis and Haemostasis 94, no. 07 (2005): 88–92. http://dx.doi.org/10.1160/th04-10-0653.

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SummaryClinical trials evaluating the potential benefit of anticoagulant treatment in pregnant women with inherited thrombophilia are based on the observation that a genetic predisposition to thrombosis is associated with frequent abortions and preterm birth. It was the aim of our study to delineate the impact of genetic polymorphisms with prothrombotic and antithrombotic effects on the occurrence of preterm birth in a large cohort of very-low-birth-weight (VLBW)-infants and their mothers. We examined the factor V Leiden and the prothrombin G20210A mutation, the factor VII 121del/ins and the f

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Kaldygulova, Lyazzat, Sauran Yerdessov, Talshyn Ukybassova, Yevgeniy Kim, Dinmukhamed Ayaganov, and Andrey Gaiday. "Polymorphism of Folate Metabolism Genes among Ethnic Kazakh Women with Preeclampsia in Kazakhstan: A Descriptive Study." Biology 13, no. 9 (2024): 648. http://dx.doi.org/10.3390/biology13090648.

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Introduction: Preeclampsia is a severe multifactorial complication of pregnancy. Studies found associations between folate metabolism genes’ polymorphisms and preeclampsia. However, investigations in this field are limited among Asian populations. Thus, the study’s aim was to evaluate the prevalence of methionine synthase (MTR), methionine synthase reductase (MTRR), and methylenetetrahydrofolate reductase (MTHFR) genes’ polymorphisms among ethnic Kazakh women with preeclampsia. Methods: This was a retrospective study involving 4246 patients’ data for the period of 2018–2022. Identification of

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Cordeiro, Quirino, Ricardo Noguti, Cássio M. C. Bottino, and Homero Vallada. "Study of association between genetic polymorphisms of phospholipase A2 enzymes and Alzheimer's disease." Arquivos de Neuro-Psiquiatria 68, no. 2 (2010): 189–93. http://dx.doi.org/10.1590/s0004-282x2010000200007.

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Several genes have been related to late-onset Alzheimer's disease (LOAD). Phospholipases A2 (PLA2) influence the processing and secretion of the amyloid precursor protein, which gives rise to the beta-amyloid peptide, the major component of the amyloid plaque in AD. Hence, in the present study, polymorphisms of three genes encoding PLA2 enzymes group (cytosolic PLA2: BanI cPLA2 polymorphism; calcium-independent PLA2: AvrII iPLA2 polymorphism; PAFAH: Val279Phe PAFAH polymorphism) were analysed in a case-control sample using 58 patients with LOAD and 107 matched healthy controls. There was a gen

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Poplawski, T., A. Sobczuk, J. Sarnik, E. Pawlowska, and J. Blasiak. "POLYMORPHISM OF DNA MISMATCH REPAIR GENES IN ENDOMETRIAL CANCER." Experimental Oncology 37, no. 1 (2015): 44–47. http://dx.doi.org/10.31768/2312-8852.2015.37(1):44-47.

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Endometrial cancer (EC) is the second most common malignancy associated with hereditary non-polyposis colorectal cancer (HNPCC) family. The development of HNPCC is associated with defects in DNA mismatch repair (MMR) pathway resulting in microsatellite instability (MSI). MSI is present in a greater number of EC than can be accounted for by inherited MMR mutations, therefore alternative mechanisms may underline defective MMR in EC, including polymorphic variation. Aim: We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G>A (rs4987188) transition in the

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Márki, Sándor, Anikó Göblös, Eszter Szlávicz, et al. "The rs13388259 Intergenic Polymorphism in the Genomic Context of theBCYRN1Gene Is Associated with Parkinson’s Disease in the Hungarian Population." Parkinson's Disease 2018 (2018): 1–7. http://dx.doi.org/10.1155/2018/9351598.

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Parkinson’s disease (PD) is a common neurodegenerative disorder characterized by bradykinesia, resting tremor, and muscle rigidity. To date, approximately 50 genes have been implicated in PD pathogenesis, including both Mendelian genes with rare mutations and low-penetrance genes with common polymorphisms. Previous studies of low-penetrance genes focused on protein-coding genes, and less attention was given to long noncoding RNAs (lncRNAs). In this study, we aimed to investigate the susceptibility roles of lncRNA gene polymorphisms in the development of PD. Therefore, polymorphisms (n=15) of t

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Traspov, AA, MM Minashkin, SV Poyarkov, et al. "The rs17713054 and rs1800629 polymorphisms of genes LZTFL1 and TNF are associated with COVID-19 severity." Bulletin of Russian State Medical University, no. 2022(6) (December 2022): 92–97. http://dx.doi.org/10.24075/brsmu.2022.065.

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Both genetic and non-genetic factors are responsible for high interindividual variability in response to SARS-CoV-2. Despite the fact that multiple genetic polymorphisms have been identified as risk factors of severe COVID-19, such polymorphisms are still insufficiently studied in the Russian population. The study was aimed to identify genetic determinants associated with severe COVID-19 in the sample of patients from the Russian Federation. The correlation of the rs17713054 polymorphism in gene LZTFL1 and rs1800629 polymorphism in gene TNF (tumor necrosis factor) with the COVID-19 severity wa

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Liu, M., J. Peng, D. Q. Xu, et al. "Association analyses of polymorphisms in porcine MYF5 and MYOD1 genes with carcass traits." Australian Journal of Agricultural Research 58, no. 11 (2007): 1040. http://dx.doi.org/10.1071/ar06420.

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The objective of this study was to assess the effect of polymorphisms of myogenic factor 5 (MYF5) and myogenic differentiation 1 (MYOD1) genes on carcass traits in pigs. PCR-RFLP was used to identify three and one SNP(s) from the MYF5 and the MYOD1 gene, respectively. Association analysis performed on the four polymorphisms in a series of three Large White × Meishan F2 populations totalling near 400 pigs showed: (1) an MYF5 exon 1 Hsp92II polymorphism causing a Met→Leu substitution was significantly associated with fat meat percentage, shoulder fat thickness, thorax-waist fat thickness, averag

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Slopien, Agnieszka, Filip Rybakowski, Monika Dmitrzak-Weglarz та ін. "TNF-α and intPLA2 genes' polymorphism in anorexia nervosa". Acta Neuropsychiatrica 16, № 6 (2004): 290–94. http://dx.doi.org/10.1111/j.0924-2708.2004.00104.x.

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Objective:The aim of this study was the assessment of −308G/A tumor necrosis factor (TNF)-α gene polymorphism and intPLA2 gene polymorphism in patients with anorexia nervosa (AN) and healthy controls.Subjects:We studied 91 non-related patients with AN and 144 healthy women (blood donors and students). The mean age of women from study group was 18.22 years (SD ± 3.13 years) and from control group was 31.71 years (SD ± 8.22).Methods:Gene polymorphisms were studied with the use of polymerase chain reaction-restriction fragment length polymorphism method. TNF-α gene polymorphism consists of G/A su

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Esteves, C., K. G. Livramento, L. V. Paiva, et al. "The polymorphisms of genes associated with the profile of fatty acids of sheep." Arquivo Brasileiro de Medicina Veterinária e Zootecnia 71, no. 1 (2019): 303–13. http://dx.doi.org/10.1590/1678-4162-9376.

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ABSTRACT The present study aimed to evaluate the occurrence of polymorphisms in Diacylglycerol acyltransferase (DGTA-1 and 2), Fatty acid synthase (FASN), Stearoyl-CoA desaturase (SCD) genes and the Thioesterase domain of FASN (TE-FASN) gene that may be related to the lipid profile. In the experiment, a total of 84 sheep from different genetic groups were used. For the evaluation of the polymorphism of the genes, PCR-Single Strand Conformation Polymorphism (SSCP) technique and subsequent sequencing were used. In DGAT-2 gene, four genotypes were identified with the presence of 6 polymorphisms,

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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. H

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Wiener, Martin, Falk W. Lohoff, and H. Branch Coslett. "Double Dissociation of Dopamine Genes and Timing in Humans." Journal of Cognitive Neuroscience 23, no. 10 (2011): 2811–21. http://dx.doi.org/10.1162/jocn.2011.21626.

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A number of lines of evidence implicate dopamine in timing [Rammsayer, T. H. Neuropharmacological approaches to human timing. In S. Grondin (Ed.), Psychology of time (pp. 295–320). Bingley, UK: Emerald, 2008; Meck, W. H. Neuropharmacology of timing and time perception. Brain Research, Cognitive Brain Research, 3, 227–242, 1996]. Two human genetic polymorphisms are known to modulate dopaminergic activity. DRD2/ANKK1-Taq1a is a D2 receptor polymorphism associated with decreased D2 density in the striatum [Jönsson, E. G., Nothen, M. M., Grunhage, F., Farde, L., Nakashima, Y., Propping, P., et al.

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Vidigal, Verônica Marques, Tiago Donizetti Silva, Juliana de Oliveira, Célia Aparecida Marques Pimenta, Aledson Vitor Felipe, and Nora Manoukian Forones. "Genetic Polymorphisms of Vitamin D Receptor (VDR), CYP27B1 and CYP24A1 Genes and the Risk of Colorectal Cancer." International Journal of Biological Markers 32, no. 2 (2017): 224–30. http://dx.doi.org/10.5301/jbm.5000248.

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Introduction Vitamin D receptor (VDR) and proteins encoded by the genes CYP27B2 and CYP24A1 involved in the production and inactivation of vitamin D can influence vitamin D and the susceptibility to colorectal cancer (CRC). The objective of this study was to investigate the relationship between the risk of CRC and polymorphisms in VDR, CYP27B1 and CYP24A1, lifestyle and dietary habits. Methods The study included 152 patients with CRC and 321 controls. All participants answered a questionnaire on their dietary habits, alcohol consumption and smoking habits. DNA was extracted from peripheral blo

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Masud, Rizwan, and Haider Zaigham Baqai. "The communal relation ofMTHFR,MTR,ACEgene polymorphisms and hyperhomocysteinemia as conceivable risk of coronary artery disease." Applied Physiology, Nutrition, and Metabolism 42, no. 10 (2017): 1009–14. http://dx.doi.org/10.1139/apnm-2017-0030.

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Homocysteine and its modulating genes have strongly emerged as novel biomarkers for coronary artery disease (CAD). In the present study, we investigated whether polymorphisms in homocysteine pathway genes and the plasma levels of homocysteine, folate, and vitamin B12, independently or in combination, are associated with CAD risk. A total of 504 participants were recruited (cases, n = 254; controls, n = 250, respectively). Tetra primer allele refractory mutation system polymerase chain reaction (PCR) was used for resolving the genotypes of 5′10′ methylenetetrahydrofolate reductase ‘MTHFR’ polym

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Troitskaya, N. I., K. G. Shapovalov, and V. A. Mudrov. "Analysis of the association of polymorphisms of genes markers functions of endothelium and vascular-plate hemostasis with development of diabetic foot syndrome." Acta Biomedica Scientifica 6, no. 4 (2021): 18–26. http://dx.doi.org/10.29413/abs.2021-6.4.2.

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The aim. To study the prevalence of various combinations of polymorphic variants of genes markers of endothelial function and vascular-platelet hemostasis in the development of diabetic foot syndrome.Materials and methods. In 198 patients with uncomplicated diabetes mellitus and 199 patients with diabetic foot syndrome, the frequency of polymorphic variants of the NOS 786C>T, END1 Lys198Asn, ITGB3 1565T>C (Leu33Pro), F5 1691G>A, F2 20210G>A, MMP9 8202A>G, MTHFR 1298A>C, VEGFA-634C>G genes was studied. Using binary logistic regression analysis, the relationship of various c

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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 (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

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Tarek A. Abdelaziz, Randa H. Mohamed, Gehan F. Balata, and Omar Y. El-Azzazy. "GENES and In-Stent Restenosis: Review." International Journal of Research in Pharmaceutical Sciences 11, no. 3 (2020): 3993–98. http://dx.doi.org/10.26452/ijrps.v11i3.2594.

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The initiation of coronary stents is a vast landmark in the practice of interventional cardiology. The vascular injury sustained during the percutaneous coronary intervention (PCI) leads to a complicated inflammatory and repairing process. Therefore, stent restenosis arises. Diabetes mellitus is the highest-risk clinical predictor of ISR. Genetics has an important role in the development of ISR. There is a suggested association between the appearance of stent restenosis and certain genetic polymorphisms. Examples of these single nucleotide polymorphisms are endothelial nitric oxide synthase ge

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Evgeny, A. Reshetnikov Inna N. Sorokina Irina V. Batlutskaya Evgeny N. Krikun Sergey P. Pahomov Valery I. Evdokimov. "POLYMORPHISMS OF GENES AND THE RISK OF PREECLAMPSIA." INDO AMERICAN JOURNAL OF PHARMACEUTICAL SCIENCES 05, no. 07 (2018): 6975–78. https://doi.org/10.5281/zenodo.1324376.

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<em>Objectives: they studied the relations of genetic polymorphisms with the risk of preeclampsia occurrence depending on hereditary complication.</em> <em>Materials and Methods: The study was conducted in two groups of pregnant women: 274 women diagnosed with preeclampsia and 179 women with physiological gestation. They studied seven polymorphisms of folate cycle genes (+677</em><em>С</em><em>></em><em>Т</em><em> M</em><em>Т</em><em>HFR (rs1801133), +1298</em><em>А</em><em>></em><em>С</em><em> M</em><em>Т</em><em>HFR (rs1801131), + 66</em><em>А</em><em>>G M</em><em>Т</em><em>RR (rs18

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Aidinidou, L., A. Chatzikyriakidou, A. Giannopoulos, et al. "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 (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-

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Hendriati and Vitresia H. "Polymorphisms of CYP1A1 Genes and Its Correlation with Clinical Variant of Pterygium." Borneo Epidemiology Journal 1, no. 2 (2020): 116–23. http://dx.doi.org/10.51200/bej.v1i2.2754.

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 Background and Objective: CYP1A1 gene, which has role in carcinogenic metabolisms, is also detected in pterygium tissue. The aim of the study is to determine the polymorphisms of CYP1A1 m2 (rs1048943) and m4 (rs1799814) gene and its correlation with clinical variant of the pterygium. Methods: DNA isolation was performed from blood sample of 80 pterygium patients consisting of 40 inflammatory and 40 non-inflammatory pterygium. Genotyping of rs1048943 SNP AG (m2) in the CYP1A1 gene was performed using Alel Specific Polymerase Chain reaction (AS-PCR) and rs1048943) SNP Genotyping wa

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Ventriglio, A., A. Petito, A. Gentile, et al. "Pharmacodynamic targets of psychotic patients treated with a long-acting therapy." European Psychiatry 41, S1 (2017): S366—S367. http://dx.doi.org/10.1016/j.eurpsy.2017.02.370.

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IntroductionGiven the poor compliance of schizofrenic patients to antipsychotic therapies, are been developed drugs in long-acting formulation that for their pharmacokinetic ensures prolonged therapeutic activities. Currently, we consider that their efficacy depends on hereditary tracts, influencing both pharmacodynamic and pharmacokinetic parameters.ObjectiveInvestigate relationships between clinical efficacy and genetic polymorphims of long-acting drugs’ pharmacodynamic targets.MethodsSeventy-eight psychotic patients, treated with atypical long-acting antipsychotics (olanzapine pamoate, pali

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Cabrera, M., M. A. Shaw, C. Sharples, et al. "Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis." Journal of Experimental Medicine 182, no. 5 (1995): 1259–64. http://dx.doi.org/10.1084/jem.182.5.1259.

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Recent studies have shown that mucocutaneous leishmaniasis (MCL), a severe and debilitating form of American cutaneous leishmaniasis (ACL) caused by Leishmania braziliensis infection, is accompanied by high circulating levels of tumor necrosis factor (TNF)-alpha. Analysis of TNF polymorphisms in Venezuelan ACL patients and endemic unaffected controls demonstrates a high relative risk (RR) of 7.5 (P &lt; 0.001) of MCL disease in homozygotes for allele 2 of a polymorphism in intron 2 of the TNF-beta gene, especially in females (RR = 9.5; P &lt; 0.001) compared with males (RR = 4; P &

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Guo, Qian-nan, Hong-dan Wang, Li-zhen Tie, et al. "Parental Genetic Variants, MTHFR 677C>T and MTRR 66A>G, Associated Differently with Fetal Congenital Heart Defect." BioMed Research International 2017 (2017): 1–7. http://dx.doi.org/10.1155/2017/3043476.

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Background. Congenital heart defect (CHD) is one of the most common birth defects in the world. The methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes are two of the most important candidate genes for fetal CHD. However, the correlations between the two genes and fetal CHD were inconsistent in various reports. Therefore, this study is aimed to evaluate the parental effects of the two genes on fetal CHD via three genetic polymorphisms, MTHFR 677C>T (rs1801133), MTHFR 1298 A>C (rs1801131), and MTRR 66A>G (rs1801394).Methods. Parents with pregnancy

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Cilenšek, Ines, Amela Hercegovac, Jovana Starčević, Katarina Vukojević, Mirna Babić, and Aleksandra Živin. "Polymorphisms of interleukin-4, -10 and 12B genes and diabetic retinopathy." Open Life Sciences 6, no. 4 (2011): 558–64. http://dx.doi.org/10.2478/s11535-011-0036-6.

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AbstractIn diabetic retinopathy (DR) and other angiogenesis-associated diseases, increased levels of cytokines, inflammatory cells, and angiogenic factors are present. We investigated the hypothesis that rs2243250 polymorphism of the interleukin 4 (IL-4) gene or rs1800896 polymorphism of the interleukin 10 (IL-10) gene, and rs3212227 polymorphism of the 3’ untranslated region (3’ UTR) of the interleukin-12 p40 gene (IL12B) may be associated with the development of proliferative diabetic retinopathy (PDR) in Caucasians with type 2 diabetes (DM2). This cross sectional case — control study includ

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Obraztsova, G. I., A. S. Glotov, T. V. Stepanova, T. E. Ivashchenko, and Y. R. Kovalev. "Analysis of polymorphisms of renin-angiotensin system and bradykinin receptor genes in children and adolescents with primary arterial hypertension." "Arterial’naya Gipertenziya" ("Arterial Hypertension") 12, no. 2 (2006): 156–60. http://dx.doi.org/10.18705/1607-419x-2006-12-2-156-160.

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We inspected 179 children and adolescents aged 9-17 years with primary arterial hypertension (AH) and 158 schoolchildren aged 7-17 years. All the hypertensive children underwent 24 hour ABPM. Family history of all the children was studied in particular of cardiovascular diseases. The 19-83G/A polymorphism of renin gene (REN), the M235T polymorphism of the angiotensinogen gene (AGT), the I/D polymorphism of angiotensin converting gene (ACE), the Al 166C polymorphism of angiotensin II type 1 receptor (AGTR1) gene, the C3123A polymorphism of angiotensin II type 2 receptor gene (AGTR2), I/D and T/

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KUBANOV, A. A., O. S. KOZHUSHNAYA, N. V. FRIGO, A. A. MINEYEVA, L. F. ZNAMENSKAYA, and V. V. CHIKIN. "Association of polymorphisms in TNFAIP3 and TNIPI genes with predisposition to the development of psoriasis in the Russian population." Vestnik dermatologii i venerologii 89, no. 6 (2013): 49–53. http://dx.doi.org/10.25208/vdv589.

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Goal. To study polymorphisms in TNFAIP3 (rs610604) and TNIPI (rs17728338) genes in a sample of psoriasis patients and healthy volunteers from the Russian Federation. Materials and methods. By using allele specific hybridization methods in the form of real-time PCR and RFLP assay (Restriction Fragment Length Polymorphism), single-nucleotide polymorphisms of fragments of the following genes associated with predisposition to the development of psoriasis were studied in whole blood samples taken from psoriasis patients (n = 286) and healthy volunteers (n = 89): TNFAIP3 (rs610604) and TNIPI (rs1772

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Ponasenko, Anastasia V., Anton G. Kutikhin, Maria V. Khutornaya, et al. "Inherited Variation in Cytokine, Acute Phase Response, and Calcium Metabolism Genes Affects Susceptibility to Infective Endocarditis." Mediators of Inflammation 2017 (2017): 1–21. http://dx.doi.org/10.1155/2017/7962546.

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Infective endocarditis (IE) is a septic inflammation of the endocardium. Recognition of microbial patterns, cytokine and acute phase responses, hemostasis features, and alterations in plasma lipid and calcium profile all have been reported to affect pathogenesis and clinical course of IE. Having recruited 123 patients with IE and 300 age-, sex-, and ethnicity-matched healthy blood donors, we profiled their genomic DNA for 35 functionally significant polymorphisms within the 22 selected genes involved in the abovementioned pathways, with the further genetic association analysis. We found that t

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Kubanov, A. A., A. A. Kubanova, A. E. Karamova, and A. A. Mineyeva. "Prevalence of genetic risk factors of psoriasis among the population of the Russian Federation." Vestnik dermatologii i venerologii 90, no. 6 (2014): 69–76. http://dx.doi.org/10.25208/0042-4609-2014-90-6-69-76.

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Goal. To assess the prevalence of polymorphisms of genes of the predisposition to psoriasis among the population of the Russian Federation. Materials and methods. The authors examined 546 psoriasis patients and 206 healthy people. The polymorphism of the following genes was assessed: genes encoding proteins of the signaling pathway of the nuclear transcription factor kappa-B - NF-κΒ (NFKBI, TRAF3IP2, TNFAIP3, REL, TYK2, TNIP1, IL-28RA) responsible for congenital immunity; genes participating in the IL-23 signaling pathway responsible for adaptive immunity (IL-23R, IL-12B); genes participating

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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 (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 an

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Khaled, Bedewy M., Abou Seada M. Noha, Antonios A. M. Manal, and Saleh M. Engy. "Role of Toll-Like Receptors 2 and 4 Genes Polymorphisms in Neonatal Sepsis in a Developing Country: A Pilot Study." Journal of Pediatric Infectious Diseases 15, no. 06 (2020): 276–82. http://dx.doi.org/10.1055/s-0040-1714710.

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Abstract Objective Toll-like receptors (TLR) are one of the key molecules that alert the immune system to the presence of microbial infections. This study attempts to elucidate the role of TLR2 and TLR4 polymorphisms in neonatal sepsis. Methods A case–control study including 30 neonates with confirmed sepsis compared with 20 neonates in a control group. TLR2 and TLR24 gene polymorphisms were confirmed by polymerase chain reaction. Results The majority of infections were attributed to gram-negative organisms (72.5%) namely Klebsiella pneumoniae, Pseudomonas aeruginosa, and Escherichia coli. Res

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Holland, J. B., S. J. Helland, N. Sharopova, and D. C. Rhyne. "Polymorphism of PCR-based markers targeting exons, introns, promoter regions, and SSRs in maize and introns and repeat sequences in oat." Genome 44, no. 6 (2001): 1065–76. http://dx.doi.org/10.1139/g01-110.

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Sequence databases could be efficiently exploited for development of DNA markers if it were known which gene regions reveal the most polymorphism when amplified by PCR. We developed PCR primer pairs that target specific regions of previously sequenced genes from Avena and Zea species. Primers were targeted to amplify 40 introns, 24 exons, and 23 promoter regions within 54 maize genes. We surveyed 48 maize inbred lines (previously assayed for simple-sequence repeat (SSR) polymorphism) for amplification-product polymorphism. We also developed primers to target 14 SSRs and 12 introns within 18 Av

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Kazakov, R. E., R. A. Chilova, E. Yu Demchenkova, et al. "Influence of individual genetic profile on the success of antibiotic usage." Voprosy ginekologii, akušerstva i perinatologii 21, no. 6 (2023): 83–91. http://dx.doi.org/10.20953/1726-1678-2023-6-83-91.

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To date, numerous studies have reported significant associations of adverse drug reactions with genetic factors. In particular, the connection between drug-induced liver injury and carriage of certain MNS haplotypes when using amoxicillin and flucloxacillin has been demonstrated. The influence of polymorphisms of the PTPN22, ERAP2, PXR, ST6GAL1 genes was also observed. The pharmacokinetics of cephalosporins is affected by polymorphisms of drug transporter genes such as SLCO1A2, SLC22A8, ABCC2, ABCG2, ABCB1, which, however, requires further clarification. The pharmacokinetics of macrolides, acc

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Shishkova, V., T. Adasheva, A. Remennik, R. Cheremin, and V. Valyaeva. "THE STUDY GENES POLYMORPHISM." Journal of Hypertension 37 (July 2019): e277. http://dx.doi.org/10.1097/01.hjh.0000573524.89907.b6.

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Shulenin, S. N., A. N. Kuchmin, and M. V. Zubakova. "Efficacy of Lozartan and Enalapril in mild-to-moderate hypertensive patients with different polymorphisms of type 2 bradykinin receptor and angiotensinogene genes." "Arterial’naya Gipertenziya" ("Arterial Hypertension") 13, no. 1 (2007): 61–68. http://dx.doi.org/10.18705/1607-419x-2007-13-1-61-68.

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The aim of the study was to investigate the influence of bradykinin type 2 receptor and angiotensinogen genes polymorphism on clinical features of hypertension and efficacy of the angiotensin II receptor blocker (Losartan) and ACE inhibitor (enalapril) in patients with mild-to-moderate hypertension. We examined 140 hypertensive patients; mean duration of hypertension constituted 9,3±2,7 years. Ambulatory blood pressure monitoring, ECHO-cardiography and genes polymorphism definition were done in all patients, with the repeated blood pressure monitoring used as a criteria of treatment efficacy.

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Allam, Ines, and Reda Djidjik. "CYTOKINES GENES POLYMORPHISMS IN SYSTEMIC LUPUS ERYTHEMATOSUS." Journal of Rheumatology 52, Suppl 1 (2025): 136.2–137. https://doi.org/10.3899/jrheum.2025-0390.pv098.

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PV098 / #559Poster Topic:AS12 - Genetics, Epigenetics, TranscriptomicsBackground/PurposeSystemic lupus erythematosus (SLE) is a complex autoimmune disease with multisystemic involvement. SLE results from the interaction between genetic and environmental factors that cause loss of tolerance to self-antigens and the synthesis of autoantibodies. The aim of our study was to assess genetically the involvement of cytokines in the pathogenesis of SLE in a group of Algerian patients.MethodsOur study was carried out on 156 lupus patients and 104 healthy subjects. Polymorphisms of the genes cytokine of

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Sari, Mutiara Indah, та Zaimah Z. Tala. "The Association of Cytokine Genes Polymorphisms (IL1β+3954 C/T, IL18-137 G/C, and IL18-607 C/A) in Type 2 Diabetes Mellitus-tuberculosis". Open Access Macedonian Journal of Medical Sciences 8, A (2020): 910–15. http://dx.doi.org/10.3889/oamjms.2020.5478.

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BACKGROUND: The cytokine gene polymorphism is associated with the development of metabolic disorder conditions and infectious diseases such as Type 2 diabetes mellitus (T2DM) and tuberculosis (TB) disease. AIM: The objective of the study is an attempt to examine the association of cytokine genes polymorphisms (IL1β+3954 C/T, IL18-137 G/C, and IL18-607 C/A) in T2DM-TB patients. METHODS: The cytokine genes polymorphisms (IL1β+3954 C/T, IL18-137 G/C, and IL18-607 C/A) were investigated in 46 T2DM-TB patients, 46 T2DM patients, and 46 healthy controls. Cytokine genes polymorphism was c

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Drazdova, E. V., K. V. Kaliasniova, V. E. Syakhovich, and N. А. Dalhina. "Polymorphisms of xenobiotic metabolism enzyme genes cyp2e1, gstm1, gstt1, ephx1 as biomarkers of sensitivity to exposure to water disinfection byproducts (using chloroform as an example)." health risk analysis, no. 1 (March 2023): 157–70. http://dx.doi.org/10.21668/health.risk/2023.1.15.eng.

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Chloroform accumulation in the body and the increase in its steady-state concentrations in blood of exposed people have been established to be associated with polymorphisms of enzyme genes in a genotype involved in metabolism of water disinfection byproducts (A415G of EPHX1 gene, C1091T of CYP2E1 gene, zero mutations of GSTT1 and GSTM1 genes) (р < 0.000001). These polymorphisms in a genotype correlate with higher chloroform levels in blood of people consuming chlorinated drinking water: by 43.8 % and higher for GSTM1 gene polymorphism; by 68.2 % and higher for GSTT1; by 80.4 % and higher fo

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Drazdova, E. V., K. V. Kaliasniova, V. E. Syakhovich, and N. А. Dalhina. "Polymorphisms of xenobiotic metabolism enzyme genes cyp2e1, gstm1, gstt1, ephx1 as biomarkers of sensitivity to exposure to water disinfection byproducts (using chloroform as an example)." Health Risk Analysis, no. 1 (March 2023): 157–70. http://dx.doi.org/10.21668/health.risk/2023.1.15.

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Chloroform accumulation in the body and the increase in its steady-state concentrations in blood of exposed people have been established to be associated with polymorphisms of enzyme genes in a genotype involved in metabolism of water disinfection byproducts (A415G of EPHX1 gene, C1091T of CYP2E1 gene, zero mutations of GSTT1 and GSTM1 genes) (р < 0.000001). These polymorphisms in a genotype correlate with higher chloroform levels in blood of people consuming chlorinated drinking water: by 43.8 % and higher for GSTM1 gene polymorphism; by 68.2 % and higher for GSTT1; by 80.4 % and higher fo

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Singh, Shweta, Gourdas Choudhuri, and Sarita Agarwal. "Frequency of CFTR, SPINK1, and Cathepsin B Gene Mutation in North Indian Population: Connections between Genetics and Clinical Data." Scientific World Journal 2014 (2014): 1–6. http://dx.doi.org/10.1155/2014/763195.

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Objectives. Genetic mutations and polymorphisms have been correlated with chronic pancreatitis (CP). This study aims to investigate the association of genetic variants of cystic fibrosis transmembrane conductance regulator (CFTR) and serine protease inhibitor Kazal type 1 (SPINK-1) genes and Cathepsin B gene polymorphisms with CP and to associate genetic backgrounds with clinical phenotypes.Methods. 150 CP patients and 150 normal controls were enrolled consecutively. We analyzed SPINK-1 N34S and IVS3+2T>C gene mutations by PCR-restriction-fragment length polymorphism (RFLP). The identificat

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Sandoval-Carrillo, Ada, Edna Méndez-Hernández, Fernando Vazquez-Alaniz, et al. "Polymorphisms in DNA Repair Genes (APEX1, XPD, XRCC1 and XRCC3) and Risk of Preeclampsia in a Mexican Mestizo Population." International Journal of Molecular Sciences 15, no. 3 (2014): 4273–83. http://dx.doi.org/10.3390/ijms15034273.

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Variations in genes involved in DNA repair systems have been proposed as risk factors for the development of preeclampsia (PE). We conducted a case-control study to investigate the association of Human apurinic/apyrimidinic (AP) endonuclease (APEX1) Asp148Glu (rs1130409), Xeroderma Pigmentosum group D (XPD) Lys751Gln (rs13181), X-ray repair cross-complementing group 1 (XRCC) Arg399Gln (rs25487) and X-ray repair cross-complementing group 3 (XRCC3) Thr241Met (rs861539) polymorphisms with PE in a Mexican population. Samples of 202 cases and 350 controls were genotyped using RTPCR. Association ana

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McColgan, Peter, Kyaw Zayar Thant, and Pankaj Sharma. "The genetics of sporadic ruptured and unruptured intracranial aneurysms: a genetic meta-analysis of 8 genes and 13 polymorphisms in approximately 20,000 individuals." Journal of Neurosurgery 112, no. 4 (2010): 714–21. http://dx.doi.org/10.3171/2009.8.jns092.

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Object Intracranial aneurysms (IAs) are thought to have a multifactorial origin. The authors undertook a comprehensive meta-analysis on all genes investigated using a case-control model in ruptured (subarachnoid hemorrhage) and unruptured aneurysms. Methods Electronic databases were searched until and including July 2008 for any candidate gene studied in IA or subarachnoid hemorrhage using a case-control model. The ORs and 95% CIs were determined for each gene-disease association using fixed and random effect models. Results Thirty studies of 8 genes and 13 polymorphisms were analyzed among 19

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Nowacka-Zawisza, Maria, Agata Raszkiewicz, Tomasz Kwasiborski, et al. "RAD51 and XRCC3 Polymorphisms Are Associated with Increased Risk of Prostate Cancer." Journal of Oncology 2019 (May 2, 2019): 1–8. http://dx.doi.org/10.1155/2019/2976373.

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Genetic polymorphisms in DNA repair genes may affect DNA repair efficiency and may contribute to the risk of developing cancer. The aim of our study was to investigate single nucleotide polymorphisms (SNPs) in RAD51 (rs2619679, rs2928140, and rs5030789) and XRCC3 (rs1799796) involved in DNA double-strand break repair and their relationship to prostate cancer. The study group included 99 men diagnosed with prostate cancer and 205 cancer-free controls. SNP genotyping was performed using the PCR-RFLP method. A significant association was detected between RAD51 rs5030789 polymorphism and XRCC3 rs1

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Guerra-Shinohara, Elvira Maria, Juliano Felix Bertinato, Kelma Cordeiro da Silva Giusti, et al. "Polymorphisms in Antitrombin (SERPINC1) and Tissue Factor Pathway Inhibitor (TFPI) Genes Are Associated with Recurrent Pregnancy Loss." Blood 118, no. 21 (2011): 711. http://dx.doi.org/10.1182/blood.v118.21.711.711.

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Abstract Abstract 711 Background: Recurrent pregnancy loss (RPL) is a multifactorial condition. The effects of antithrombin (SERPINC1), protein C (PROC), thrombomodulin (THBD) and tissue factor pathway inhibitor (TFPI) gene polymorphisms in the risk of having RPL are unknown. Aims: To determine the effects of SERPINC1, PROC, THBD and TFPI gene polymorphisms in the risk of having RPL. Methods: One hundred and fifteen non-pregnant women with three consecutive losses prior to 20 weeks of pregnancy without carrying a fetus to viability (primary RPL) and 253 healthy fertile non-pregnant women who h

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Dabre, Soayebo, Abdou Azaque Zoure, Touwendpoulimdé Isabelle Kiendrébéogo, et al. "Involvement of p.R72P and PIN3 Ins16bp (TP53) Polymorphisms and the I157T (CHEK2) Mutation in Breast Cancer Occurrence in Burkina Faso." Asian Pacific Journal of Cancer Biology 8, no. 2 (2023): 135–45. http://dx.doi.org/10.31557/apjcb.2023.8.2.135-145.

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Introduction: The TP53 and CHEK2 genes have been described as breast cancer susceptibility genes and some of their polymorphisms have been associated with an increased risk of breast cancer in certain populations.Aim: The objective of this study was to investigate the p.R72P and PIN3 Ins16bp (TP53) polymorphisms and the I157T (CHEK2) mutation developping of breast cancer. Methods: This case-control study had enrolled 144 participants including 65 cases (breast cancer patients) and 79 controls (women without breast abnormalities) in the city of Ouagadougou in Burkina Faso. The DNA was extracted

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Mahmoudi, Reza, Bahareh Noori Alavicheh, Mohammad Amin Nazer Mozaffari, Mohammad Fararouei, and Mohsen Nikseresht. "Polymorphisms of Leptin (-2548 G/A) and Leptin Receptor (Q223R) Genes in Iranian Women with Breast Cancer." International Journal of Genomics 2015 (2015): 1–6. http://dx.doi.org/10.1155/2015/132720.

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Recent studies have shown that polymorphisms in leptin and leptin receptor genes are associated with increased risk for breast cancer. This study aimed at investigating -2548 G/A polymorphism in leptin gene and Q223R polymorphism in leptin receptor gene in patients with breast cancer. The study included 45 women with breast cancer and 41 healthy women. PCR-RFLP was used to determine the genotype of the subjects in terms of -2548 G/A polymorphism in leptin gene and Q223R polymorphism in leptin receptor gene. Serum levels of leptin were also measured by ELISA. For -2548 G/A polymorphism, the gen

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Myserli, E., A. Fylaktou, and G. Gioula. "HLA-Human Leukocyte Antigens and their genetic polymorphisms in Hepatitis B virus infection (HBV-infection)." ACTA MICROBIOLOGICA HELLENICA 61, no. 4 (2016): 275–83. https://doi.org/10.5281/zenodo.10066645.

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The variety of HBV infection clinical phenotypes depends either on environment or on both host's and viral genetics. The Major Histocompatibility Complex - MHC encodes the expression of Human Leucocyte Antigens - HLA, the main molecules of host's immune response. As a result, the polymorphism of these genes affects the clinical outcome of every infection. This assumption was also documented for Hepatitis B virus (HBV) infection by Genome Wide Association Studies - GWAS held in different ethnic groups. Certain polymorphisms in both HLA Class I and the Class II genes have been associated with su

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Anisenkova, A., Y. Kovalev, A. Kuchinskii, et al. "Structural features of DNAin women with ischemic heart disease." "Arterial’naya Gipertenziya" ("Arterial Hypertension") 14, no. 1 (2008): 53–58. http://dx.doi.org/10.18705/1607-419x-2008-14-1-53-58.

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Clinical aspects, risk factors, results of selective coronary angiography, features of DNA-polymorphism (I/D polymorphism of gene ACE, isoalleles polymorphism gene APOE, SsTI polymorphism gene АРОСЗ, С677Т polymorphism of gene MTHFR, 4a/4b, G894T and T786C polymorphisms eNOs) in 89 women with a various degree of a coronary obstruction. In patients with sings of coronary artery atherosclerosis, familial history i heart disease was observed in most cases (greater degree on a line of mother). The obtained data show the reliable role of allele T, genotype CT gene MTHFRand gene-gene interaction of

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Fedulichev, P. N. "Polymorphisms in ESR1 and CYP19A1 genes in postmenopausal women with knee osteoarthritis." Bulletin of the Medical Institute "REAVIZ" (REHABILITATION, DOCTOR AND HEALTH) 14, no. 3 (2024): 15–20. http://dx.doi.org/10.20340/vmi-rvz.2024.3.morph.1.

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To date, a number of studies have been carried out to investigate the role of polymorphisms in estrogen receptor (ESR) and aromatase (CYP19A1) genes in knee osteoarthritis. However, the obtained results are contradictory and are not sufficient to formulate final conclusions. Purpose of the study: to investigate the associations of the rs2234693 and rs9340799 polymorphisms in ESR1 gene and the rs2414096 and rs936306 polymorphisms in CYP19A1 gene with knee osteoarthritis in postmenopausal women. Material and methods. Molecular genetic studies were performed in 157 postmenopausal women with knee

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