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Journal articles on the topic 'Gene polymorphism'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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1

Dimitrijević, Sanja, Biljana Jekić, Suzana Cvijetičanin, et al. "KCC2 rs2297201 Gene Polymorphism Might be a Predictive Genetic Marker of Febrile Seizure." ASN Neuro 14 (April 12, 2022): 1–8. https://doi.org/10.1177/17590914221093257.

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Introduction:Febrile seizures (FS) are the most common neurological disease in childhood. The etiology of FS is the subjectof numerous studies including studies regarding genetic predisposition.Aim:The aim of the study was to analyze the asso-ciation ofTRPV1rs222747 andKCC2rs2297201 gene polymorphisms with the occurrence of FS.Materials and Methods:The study included 112 patients diagnosed with FS classified as simple febrile seizures (SFS) or complex febrile seizures (CFS).We analyzed selected polymorphisms ofKCC2andTRPV1genes using the Real-time PCR method.Results:The CT and TTgenotypes of t

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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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3

Guldiken, Baburhan, Tammam Sipahi, Remziye Tekinarslan, et al. "Calcitonin Gene Related Peptide Gene Polymorphism in Migraine Patients." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 40, no. 5 (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 ch

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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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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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Baranova, N. I., L. A. Ashchina, O. A. Kulieva, and A. I. Bolgova. "The association of cytokine gene polymorphisms with the development and course of COVID-19." Journal Infectology 17, no. 1 (2025): 36–45. https://doi.org/10.22625/2072-6732-2025-17-1-36-45.

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Objective: to study polymorphic variants of IL-2 (T330G), IL-10 (A592C), IL-6 (rs180795), INF a/b receptor (rs9984273), INFL4 (rs368234815), INFL3 (rs12979860), INF-γ (rs2430561) genes in COVID-19 patients to determine the risk of development and severity of the disease.Materials and methods: genetic analysis of the studied gene polymorphisms was performed in 172 patients with COVID-19 (group 1 – with mild, group 2 – with moderate and group 3 – with severe and extremely severe degrees of severity). The control group consisted of 40 healthy donors. Statistical processing of the obtained results

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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 (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 dis

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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 (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 t

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Özturan Şirin, Ayçıl, and Yasemin Akdevelioğlu. "The relationship of energy-restricted diet with FTO and MC4R gene polymorphism in patients with polycystic ovary syndrome." Cukurova Medical Journal 49, no. 3 (2024): 580–91. http://dx.doi.org/10.17826/cumj.1447513.

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Purpose: The aim of this study was to determine whether the effects of an energy-restricted diet on overweight/obese patients with PCOS on body composition and biochemical parameters in groups with MC4R rs17782313 and FTO rs9939609 polymorphisms differ from those without gene polymorphism. Materials and Methods: A total of 48 women aged 18-45 were accepted. An 8-week diet intervention was applied, and anthropometric measurements, biochemical parameters and food consumption of the patients were determined before and after the intervention. In addition, FTO gene rs9939609 and MC4R gene rs1778231

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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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Dib, Azza, Hanan Hijazi, Hana Hammoud, and Yasmeen Obeid. "Investigation of the Effect of Two Major eNOS Polymorphisms (4a/b and T786C) on Coronary Artery Disease in North Lebanon." International Research Journal of Multidisciplinary Scope 06, no. 01 (2025): 641–51. https://doi.org/10.47857/irjms.2025.v06i01.02762.

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Endothelial nitric oxide synthase is a crucial gene associated with coronary artery disease, owing to the important functions of nitric oxide in vessel protection and vasodilation. Three “Single Nucleotide Polymorphisms” were found to be significantly associated with CAD: ‘the 4a/b polymorphism in intron 4’, ‘G894T (GLU298ASP) in exon 7’, and ‘the T786C replacement in the flanking region’. This study aimed to explore the relationship between the '4a/b polymorphism of the eNOS gene', the 'T786C polymorphism of the eNOS gene', and 'the combined effect of both 4a/b and T786C' with the risk of CAD

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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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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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Sapna Devi, A. "Metabolic Syndrome and VDR Gene Polymorphism." International Journal of Science and Research (IJSR) 13, no. 2 (2024): 610–12. http://dx.doi.org/10.21275/sr24205120015.

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15

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 (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

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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 (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)

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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 &#x2AAC 0.01) with C and T as a desirable allele, respectiv

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Dakota, Iwan, Muhamad Fajri Adda’i, Rido Maulana, Ignatius Ivan, Renan Sukmawan, and Bambang Widyantoro. "Association between vitamin D receptor gene polymorphism and essential hypertension: An updated systematic review, meta-analysis, and meta-regression." PLOS ONE 19, no. 12 (2024): e0314886. https://doi.org/10.1371/journal.pone.0314886.

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The association between Vitamin D Receptor (VDR) gene polymorphisms and essential hypertension (EH) remains controversial. We searched databases (Cochrane Library, EBSCO, EMBASE, LILACS, ProQuest, PubMed, Science Direct, Springer) for studies on VDR gene polymorphisms and EH until May 30, 2024, following PRISMA guidelines. RevMan 5.4.1 provided pooled odds ratio (OR) under Hardy-Weinberg Equilibrium based on allele, additive, dominant, and recessive genetic models. Meta-regression was performed using Comprehensive Meta Analysis V3. Twenty-two studies from thirteen countries were analyzed. The

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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 (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 poly

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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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Troitskaya, N. I., K. G. Shapovalov, and V. A. Mudrov. "THE PREVALENCE OF GENETIC POLYMORPHISMS FOR REGULATION OF VASCULAR TONE, PLATELET RECEPTORS, VASCULAR WALL REMODELING AND PROTHROMBOTIC FACTORS IN DIABETIC FOOT SYNDROME." Novosti Khirurgii 29, no. 5 (2021): 549–57. http://dx.doi.org/10.18484/2305-0047.2021.5.549.

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Objective. To analyze the frequency of occurrence of eNOS 786C>T, END1 Lys198Ash, ITGB3 1565T>C (Leu33Pro), F5 1691G>A, F2 20210G>A, MMP9 8202A>G, MTHFRA 1298 C,VEGFA 634C>G gene polymorphisms in diabetic foot syndrome. Methods. The study included patients (n=198) with uncomplicated diabetes mellitus and patients (n=199) with the development of diabetic foot syndrome. Genotyping of the studied gene polymorphisms was performed by the polymerase chain reaction method. Results. In patients with uncomplicated diabetes mellitus and in patients with diabetic foot, no significant di

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Patel, Shruti R., Kinjal D. Patel, Jayendra B. Patel, Prabhudas S. Patel, and Franky Dhaval Shah. "Association of vitamin D receptor gene polymorphisms with breast cancer risk." Journal of Cancer Research and Therapeutics 19, Suppl 2 (2023): S677—S681. http://dx.doi.org/10.4103/jcrt.jcrt_60_22.

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ABSTRACTS Background: Recent literature suggests that vitamin D signaling has a protective effect against breast cancer risk. Thus, the aim of the present study was to find the association of vitamin D receptor (VDR) gene polymorphisms with breast cancer risk. Materials and Methods: Fok1, Bsm1, Apa1, and Taq1 polymorphisms were performed by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) method, and Poly A polymorphism was carried out using PCR-SSCP in 140 breast cancer patients and 155 controls. Results: Odds ratio was significantly higher in both homozygous var

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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 t

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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 E

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Stepanova, Ye, I. Kolpakov, V. Vdovenko, V. Zigalo, V. Kondrashova, and O. Leonovich. "MOLECULAR GENETIC ASPECTS OF BRONCHIAL HYPERREACTIVITY IN CHILDREN – RESIDENTS OF RADIOACTIVELY CONTAMINATED AREAS." Проблеми радіаційної медицини та радіобіології = Problems of Radiation Medicine and Radiobiology 25 (2020): 531–42. http://dx.doi.org/10.33145/2304-8336-2020-25-531-542.

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Objective. to determine the relationship between polymorphisms of glutathione S-transferase gene family and bronchial hyperreactivity in children living in radioactively contaminated areas. Materials and methods. School age children-residents of radioactively contaminated areas (RCA), without clinical signs of respiratory pathology were examined. Molecular genetic studies were carried out by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) for further analysis. The GSTT1, GSTM1 gene deletion polymorphism was investigated using multiplex PCR. PCR and PCR-RFLP

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Wang, Guohua, Liangyi Xie, Jianzhong Hu, et al. "Osteopontin, Bone Morphogenetic Protein-4, and Vitamin D Receptor Gene Polymorphisms in the Susceptibility and Clinical Severity of Spinal Tuberculosis." Cellular Physiology and Biochemistry 41, no. 5 (2017): 1881–93. http://dx.doi.org/10.1159/000471935.

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Background/Aims: Spinal tuberculosis (TB) is a common and dangerous form of extrapulmonary TB with unclear mechanisms in its occurrence and progression. This study investigated the clinical significances of bone morphogenetic protein-4 (BMP-4), osteopontin (OPN), and vitamin D receptor (VDR) gene polymorphism, mRNA and protein expression in spinal TB patients. Methods: BMP-4 and OPN gene polymorphisms were detected by direct DNA sequencing, while VDR-FokI polymorphisms were analyzed using PCR-RFLP. mRNA and protein expression was measured using real-time PCR and Western blot, respectively. Res

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Delluc, Aurélien, Lénaïck Gourhant, Karine Lacut, 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 con

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Titova, M. A., V. M. Alifirova, N. F. Musina та T. N. Nikolaeva. "The Role of <i>TNF</i>-α, <i>TNFRSF1A</i>, and <i>CD40</i> Genes Polymorfisms in Multiple Sclerosis in Tomsk Region". Нейрохимия 40, № 3 (2023): 292–98. http://dx.doi.org/10.31857/s1027813323020152.

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We studied the role of polymorphisms rs1800629 of the TNF-α gene; rs4149584 of the TNFRSF1A gene; rs6074022, rs1883832, rs1535045, rs11086996 of the CD40 gene in the onset, clinical course and response to treatment in multiple sclerosis (MS) in a group of 152 patients, living in Tomsk region. 707 volunteers without autoimmune diseases and pathology of the nervous system were included in control group. The allele C of the rs6074022 polymorphism of CD40 gene was associated with the risk of MS and contributed to the high rate of disease progression. The T allele of the rs6074022 polymorphism of C

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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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Wardhani, Shinta Oktya, Hani Susianti, Pudji Rahayu, and Yuyun Prabowowati Yueniwati. "Effects of the FOXO3a rs 4946936 Gene Polymorphism on the FOXO3a Transcription Factor in Chronic Granulocytic Leukemia Patients." Open Access Macedonian Journal of Medical Sciences 9, B (2021): 1156–59. http://dx.doi.org/10.3889/oamjms.2021.6811.

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Introduction : FOXO3a has an important role in the maintenance of leukemic stem cells. BCR-ABL inhibition therapy by TKI dasatinib aims to reduce the phosphorylation of the transcription factor FOXO3a, promote localization of FOXO3a in the nucleus and restore transcriptional activity. However, some studies showed that the TKI dasatinib, in addition to increase the relocation of Foxo3a to the intranuclear, also increase the expression of CDKN1c/p57 and Bcl6 genes that became the down target for Foxo3a intra nucleus ATM. Therefore, current therapy is mostly directed at personalized therapy (pers

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Tuna, A., G. Ozturk, TB Gerceker, et al. "Superoxide dismutase 1 and 2 gene polymorphism in Turkish vitiligo patients." Balkan Journal of Medical Genetics 20, no. 2 (2017): 67–73. http://dx.doi.org/10.1515/bjmg-2017-0033.

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Abstract Vitiligo is an acquired disease of unknown etiology. Several theories have been proposed to understand the pathogenesis. The role of oxidative stress has been getting more important in recent years. One of the primary antioxidant enzymes in vitiligo is the superoxide dismutase (SOD). The aim of this study is to investigate the polymorphisms of the SOD1 and SOD2 in Turkish vitiligo patients. One hundred one vitiligo patients and 99 healthy controls without family history of vitiligo were included into the study. The SOD1 35 A/C and SOD2 A16V (C/T) polymorphisms were analyzed by polymer

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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 confor

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Kalmykov, Egan, Igor’ A. Suchkov, Roman E. Kalinin, Okildyhon Ne’matzoda, and Jamshed S. Dodkhoev. "The Role and Significance of Polymorphisms of Certain Genes in Patients with Abdominal Aortic Aneurysm." I.P. Pavlov Russian Medical Biological Herald 30, no. 4 (2022): 437–45. http://dx.doi.org/10.17816/pavlovj108311.

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INTRODUCTION: To date, many factors that influence the risk and course of abdominal aortic aneurysm (AAA) are not studied. Increasing significance in the etiology and development of AAA is assigned to the existence of some genetic polymorphisms, the role of many of them is not studied either. AIM: To analyze the existence of association of the abdominal aortic aneurysm with some gene polymorphisms (GPs). MATERIALS AND METHODS: Gene polymorphisms were analyzed in 20 patients with AAA (study group, SG); 18 men (90%) and 2 women (10%), the mean age 68.1 7.3 years), and in 5 patients w

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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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YILMAZ, SEMA, Asim Yoruk, Itır Ebru Zemheri, et al. "Hypoxia inducible factor-1 alpha (Hif-1 alpha) polymorphism in lymphoma and reactive lymphoid hyperplasia." Asian Pacific Journal of Cancer Biology 4, no. 2 (2019): 35–40. http://dx.doi.org/10.31557/apjcb.2019.4.2.35-40.

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Background: Lymphadenopathy is an abnormality in the size or the character of the lymph node. It may be a manifestation of infectious and malignant diseases. Reactive lymphoid hyperplasia is a benign form of lymphadenopathy. Cells develop numerous adaptive responses regulated by hypoxia inducible factor-1 alpha (Hif-1 alpha) against hypoxic stress. Purpose: Hif-1alpha may play a role in the process of carcinogenesis in the early stage of cancer. We aimed to investigate the most common polymorphism of Hif-1α C1772T and G1790A gene polymorphisms in reactive lymphoid hyperplasia and lymphom

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Tavana, Zohreh, Azadeh Khalili, Golnaz Namazi, et al. "Prevalence of common polymorphisms of AT-rich interaction domain 1A and endothelial nitric oxide synthase in patients with endometriosis compared to control group." Journal of Endometriosis and Pelvic Pain Disorders 10, no. 1 (2018): 26–31. http://dx.doi.org/10.1177/2284026518764352.

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Introduction: Endometriosis is a common gynecologic disorder defined as ectopic presence of endometrial tissue in extrauterine sites. Endometriosis is associated with infertility and risk of malignancy. Identification of genetic factors responsible for development and malignant transformation of endometriosis can improve therapeutic approaches. In this study, we investigated the association of AT-rich interaction domain 1A ( ARID1A) and endothelial nitric oxide synthase ( eNOS) polymorphisms with endometriosis and staging of the disease. Methods: A total of 100 women with laparoscopy-confirmed

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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 (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 nu

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Araújo, Milena Moreira de, Karine Câmara Silva, Marina Araújo Leite Assis, Paulo Eduardo Alencar de Souza, Fernando de Oliveira Costa, and Rodrigo Villamarim Soares. "VEGF gene polymorphism in periodontitis." Brazilian Journal of Periodontology 31, no. 1 (2021): 133–44. http://dx.doi.org/10.14436/0103-9393.31.1.133-144.oar.

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INTRODUCTION: Since subjects affected by periodontitis might present an enhanced expression of the vascular endothelium growth factor (VEGF) gene, the aim of this study was to evaluate if polymorphic variants of the VEGF 936C/T gene polymorphism were associated with the periodontitis. MATERIALS AND METHODS: Oral mucosa cells were collected from 43 individuals diagnosed with periodontitis stages III and IV, and from periodontally healthy subjects. Once DNA was extracted from the cells, specific primers were used for PCR testing. The amplified gene products were submitted to electrophoresis in p

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Pyvovar, Sergiy, Iurii Rudyk та Tetiana Shcherban. "THE ASSOCIATIONS OF β-ADRENORECEPTORS GENES POLYMORPHISMS WITH THE COURSE OF HEART FAILURE AND WITH THE LOW TRIIODOTHYRONINE SYNDROME (LITERATURE REVIEW AND OWN OBSERVATIONS)E". Problems of Endocrine Pathology 80, № 4 (2023): 77–94. http://dx.doi.org/10.21856/j-pep.2023.4.09.

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The systematization of literature data on the associations of β-adrenoreceptors (β-AR) genes polymorphisms with the course of heart failure (HF) and with the development of low triiodothyronine syndrome (LT3S), and the results of our own study were presented. The study of associations of β-AR system genes polymorphisms with the clinical outcome of HF and the effectiveness of β-adrenoblockers (β-AB) has been continued. It has been demonstrated that carrier state of the A allele of the Ser49Gly (c.145A > G) polymorphism of the b1-AR gene leads to a decrease in the risk of combined end point.

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Evrosimovska, Biljana, Cena Dimova, Lidija Popovska, and Efka Zabokova-Bilbilova. "Matrix Matalloproteinase-8 Gene Polymorphism in Chronic Periapical Lesions." PRILOZI 36, no. 2 (2015): 217–24. http://dx.doi.org/10.1515/prilozi-2015-0070.

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AbstractBackground/Aim: Increased levels of matrix metalloproteinase-8 (MMP-8) have been associated with risk of developing chronic periapical lesion (CPL). Gene polymorphisms are contributing factors in the pathogenesis of the inflammation. The aim of this study was to analyze polymorphism in the gene MMP-8 and its association and influence on clinical manifestation of CPL.Methods: A total of 240 unrelated Macedonian subjects were included in the present study. Polymorphism -799 C/T in the gene MMP-8 detected with restriction enzyme BgIII was studied in 120 patients with CPL and 120 controls

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Ismayilova, Nergiz, Melis Palamar, Huseyin Onay, et al. "Vitamin D receptor gene polymorphisms in ocular surface squamous cell neoplasms." European Journal of Ophthalmology 30, no. 5 (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, a

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R., Vasudevan, Ismail P., Jaafar N.I., et al. "Analysis of Human Bradykinin Receptor Gene and Endothelial Nitric Oxide Synthase Gene Polymorphisms in End-Stage Renal Disease Among Malaysians." Balkan Journal of Medical Genetics 17, no. 1 (2014): 37–40. http://dx.doi.org/10.2478/bjmg-2014-0023.

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Abstract The aim of this study was to determine the association of the c.894G>T; p.Glu298Asp polymorphism and the variable number tandem repeat (VNTR) polymorphism of the endothelial nitric oxide synthase (eNOS) gene and c.181C>T polymorphism of the bradykinin type 2 receptor gene (B2R) in Malaysian end-stage renal disease (ESRD) subjects. A total of 150 ESRD patients were recruited from the National Kidney Foundation’s (NKF)dialysis centers in Malaysia and compared with 150 normal healthy individuals. Genomic DNA was extracted from buccal cells of all the subjects. The polymerase chain

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Kachkovska, Vladyslava V. "ER22/23EK AND TTH111I POLYMORPHIC VARIANTS IN THE GLUCOCORTICOID RECEPTOR GENE IN PATIENTS WITH BRONCHIAL ASTHMA." Polski Merkuriusz Lekarski 51, no. 4 (2023): 398–402. http://dx.doi.org/10.36740/merkur202304115.

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Aim: The objective of the study was to evaluate the frequency of the ER22/23EK and Tth111I polymorphic variants in the glucocorticoid receptor (GR) gene in patients with BA and to assess the risk of BA development with regard to these polymorphisms. Materials and Methods: We examined 553 BA patients and 95 apparently healthy individuals. BA was diagnosed according to the 2016 GINA recommendations and its later versions. The study was approved by the Bioethics Committee of the Medical Institute of Sumy State University. The ER22/23EK (rs 6189/6190) and Tth111I (rs10052957) polymorphisms in the

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Moura, Katia Franco, Mauro Haidar, Claudio Bonduki, et al. "Frequencies of interleukin-6, GST and progesterone receptor gene polymorphisms in postmenopausal women with low bone mineral density." Sao Paulo Medical Journal 132, no. 1 (2014): 36–40. http://dx.doi.org/10.1590/1516-3180.2014.1321566.

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CONTEXT AND OBJECTIVE: Osteoporosis is a skeletal disorder characterized by low bone mineral density (BMD). Studies have shown that some of the genetic components relating to lower BMD may be detected by polymorphisms. Our aim was to evaluate the frequencies of interleukin-6, GST and progesterone receptor gene polymorphisms in postmenopausal women with low BMD. DESIGN AND SETTING: Cross-sectional study, conducted in a public university in São Paulo, Brazil. METHODS : We evaluated interleukin-6 (IL-6), progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) polymorphisms in 110

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Rasheid, Abduqader W. "Association of Mutation and Polymorphism in Lipoprotein Lipase Gene with Coronary Heart Disease in Some Iraqi Patient." Jurnal Biologi 2, no. 2 (2025): 11. https://doi.org/10.47134/biology.v2i2.3738.

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Prior research has assessed the correlations between the likelihood of acquiring diabetes mellitus and the polymorphism in the cholesterol ester transfer protein (LIPASE GENE). Chronic hyperglycemia and abnormalities in the metabolism of carbohydrates, fats, and proteins due to deficiencies in insulin production, action, or both are characteristics of the metabolic condition known as diabetes mellitus (DM), which has several etiologies. However, the conclusions are still up for debate. This study sought to determine whether lipid profile abnormalities in Iraqi diabetic patients were associated

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Harun-Or-Roshid, Md, Md Borqat Ali, Jesmin, and Md Nurul Haque Mollah. "Statistical meta-analysis to investigate the association between the Interleukin-6 (IL-6) gene polymorphisms and cancer risk." PLOS ONE 16, no. 3 (2021): e0247055. http://dx.doi.org/10.1371/journal.pone.0247055.

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A good number of genome-wide association studies (GWAS), including meta-analyses, reported that single nucleotide polymorphisms (SNPs) of the IL-6 gene are significantly associated with various types of cancer risks, though some other studies reported insignificant association with cancers, in the literature. These contradictory results may be due to variations in sample sizes and/or deficiency of statistical modeling. Therefore, an attempt is made to provide a more comprehensive understanding of the association between the IL-6 gene SNPs (rs1800795, rs1800796, rs1800797) and different cancer

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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 (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. Ap

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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 (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 ch

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Saidov, M. Z., S. N. Mammaev, G. M. Magadova, et al. "Association of angiotensinogen and angiotensin II receptor type I polymorphisms with biomarkers of carbohydrate and lipid metabolism in Dagestan residents with type 2 diabetes and hypertension." Russian Journal of Cardiology 26, no. 10 (2021): 4549. http://dx.doi.org/10.15829/1560-4071-2021-4549.

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Aim. To study the associations of angiotensinogen (AGT) (s4762(С521Т), rs699(Т704C)) and angiotensin II receptor type I (AGTR1) (rs5186(A1166C)) genetic polymorphisms with serum levels of insulin, glucagon, C-peptide, leptin, as well as with dyslipidemia and glycemic levels in Dagestan residents with combination of type 2 diabetes (T2D) and hypertension (HTN), as well as with isolated T2D/HTN.Material and methods. We examined 16 patients with isolated T2D, 59 patients with T2D+HTN and 51 patients with isolated HTN from Dagestan. Genetic polymorphisms of the AGT and AGTR1 genes were studied. Th

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