Association of FV G1691A, FV H1299R, and FII G20210A variations with thrombosis and coronary artery disease (CAD): A population-based study.

IF 1.5 4区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Journal of Medical Biochemistry Pub Date : 2025-06-13 DOI:10.5937/jomb0-39668

Özmen Sevda Ünallı, Yeşim Özarda, Aylin Köseler, Ramazan Sabırlı, Derya Sucu Kaynak, Ibrahim Koç

{"title":"Association of FV G1691A, FV H1299R, and FII G20210A variations with thrombosis and coronary artery disease (CAD): A population-based study.","authors":"Özmen Sevda Ünallı, Yeşim Özarda, Aylin Köseler, Ramazan Sabırlı, Derya Sucu Kaynak, Ibrahim Koç","doi":"10.5937/jomb0-39668","DOIUrl":null,"url":null,"abstract":"Background: Thrombosis and coronary artery disease (CAD) are complex disorders influenced by genetic factors. Specific gene variations, such as Factor V (FV) G1691A (Leiden), FV H1299R, and Prothrombin (FII) G20210A, have been implicated in thrombotic events and CAD. However, their precise role in CAD development remains controversial. This study investigated the prevalence and association of these gene variations with thrombosis and CAD in the Turkish population.Methods: A case-control study included 406 healthy individuals and 64 CAD patients. Genotyping for FV G1691A, FV H1299R, and FII G20210A was performed using a strip assay. Fisher's exact test compared allele and genotype frequencies between the CAD and control groups.Results: No significant differences were observed in genotype frequencies of FV G1691A, FV H1299R, and FII G20210A between the CAD and control groups (p>0.05). Similarly, allele frequencies did not differ significantly between the two groups (p>0.05).Conclusions: The findings suggest that FV G1691A, FV H1299R, and FII G20210A variations may not play a significant role in the development of CAD in the Turkish population studied. These results are consistent with the existing conflicting literature on the association between these gene variations and CAD. Further research with larger sample sizes and diverse populations is warranted to elucidate the role of these variations in CAD pathogenesis.","PeriodicalId":16175,"journal":{"name":"Journal of Medical Biochemistry","volume":"44 3","pages":"447-452"},"PeriodicalIF":1.5000,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12357640/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medical Biochemistry","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5937/jomb0-39668","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Thrombosis and coronary artery disease (CAD) are complex disorders influenced by genetic factors. Specific gene variations, such as Factor V (FV) G1691A (Leiden), FV H1299R, and Prothrombin (FII) G20210A, have been implicated in thrombotic events and CAD. However, their precise role in CAD development remains controversial. This study investigated the prevalence and association of these gene variations with thrombosis and CAD in the Turkish population.

Methods: A case-control study included 406 healthy individuals and 64 CAD patients. Genotyping for FV G1691A, FV H1299R, and FII G20210A was performed using a strip assay. Fisher's exact test compared allele and genotype frequencies between the CAD and control groups.

Results: No significant differences were observed in genotype frequencies of FV G1691A, FV H1299R, and FII G20210A between the CAD and control groups (p>0.05). Similarly, allele frequencies did not differ significantly between the two groups (p>0.05).

Conclusions: The findings suggest that FV G1691A, FV H1299R, and FII G20210A variations may not play a significant role in the development of CAD in the Turkish population studied. These results are consistent with the existing conflicting literature on the association between these gene variations and CAD. Further research with larger sample sizes and diverse populations is warranted to elucidate the role of these variations in CAD pathogenesis.

查看原文本刊更多论文

FV G1691A、FV H1299R和FII G20210A变异与血栓形成和冠状动脉疾病（CAD）的关联：一项基于人群的研究

背景：血栓形成和冠状动脉疾病（CAD）是受遗传因素影响的复杂疾病。特定的基因变异，如因子V (FV) G1691A (Leiden)， FV H1299R和凝血酶原（FII） G20210A，与血栓事件和CAD有关。然而，它们在CAD发展中的确切作用仍然存在争议。本研究调查了土耳其人群中这些基因变异与血栓形成和冠心病的患病率和相关性。方法：采用病例-对照研究，纳入406例健康人和64例冠心病患者。采用条带法对FV G1691A、FV H1299R和FII G20210A进行基因分型。Fisher的精确测试比较了CAD组和对照组之间的等位基因和基因型频率。结果：冠心病组与对照组FV G1691A、FV H1299R、FII G20210A基因型频率差异无统计学意义（p < 0.05）。同样，等位基因频率在两组间无显著差异（p < 0.05）。结论：研究结果表明，FV G1691A、FV H1299R和FII G20210A变异可能在研究的土耳其人群中CAD的发展中不起重要作用。这些结果与现有关于这些基因变异与CAD之间关系的相互矛盾的文献一致。进一步的研究需要更大的样本量和不同的人群来阐明这些变异在CAD发病机制中的作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Journal of Medical Biochemistry BIOCHEMISTRY & MOLECULAR BIOLOGY-

CiteScore

3.00

自引率

12.00%

发文量

审稿时长

>12 weeks

期刊介绍： The JOURNAL OF MEDICAL BIOCHEMISTRY (J MED BIOCHEM) is the official journal of the Society of Medical Biochemists of Serbia with international peer-review. Papers are independently reviewed by at least two reviewers selected by the Editors as Blind Peer Reviews. The Journal of Medical Biochemistry is published quarterly. The Journal publishes original scientific and specialized articles on all aspects of clinical and medical biochemistry, molecular medicine, clinical hematology and coagulation, clinical immunology and autoimmunity, clinical microbiology, virology, clinical genomics and molecular biology, genetic epidemiology, drug measurement, evaluation of diagnostic markers, new reagents and laboratory equipment, reference materials and methods, reference values, laboratory organization, automation, quality control, clinical metrology, all related scientific disciplines where chemistry, biochemistry, molecular biology and immunochemistry deal with the study of normal and pathologic processes in human beings.