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凝血因子V G1691A、凝血因子V H1299R及凝血因子II G20210A变异与血栓形成及冠状动脉疾病(CAD)的关联:一项基于人群的研究。

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

作者信息

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

机构信息

City Hospıtal, Central Laboratory, Department of Medical Biochemistry Bursa, Turkey.

Yeditepe Unıversity, Faculty of Medicine, Department of Medical Biochemistry, Istanbul, Turkey.

出版信息

J Med Biochem. 2025 Jun 13;44(3):447-452. doi: 10.5937/jomb0-39668.

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.

摘要

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,如凝血因子V(FV)G1691A(莱顿突变)、FV H1299R和凝血酶原(FII)G20210A,与血栓形成事件和CAD有关。然而,它们在CAD发展中的精确作用仍存在争议。本研究调查了这些基因变异在土耳其人群中与血栓形成和CAD的患病率及相关性。

方法

一项病例对照研究纳入了406名健康个体和64名CAD患者。使用条带分析法对FV G1691A、FV H1299R和FII G20210A进行基因分型。采用Fisher精确检验比较CAD组和对照组之间的等位基因和基因型频率。

结果

CAD组和对照组之间FV G1691A、FV H1299R和FII G20210A的基因型频率无显著差异(p>0.05)。同样,两组之间的等位基因频率也无显著差异(p>0.05)。

结论

研究结果表明,在本研究的土耳其人群中,FV G1691A、FV H1299R和FII G20210A变异可能在CAD的发展中不起重要作用。这些结果与关于这些基因变异与CAD之间关联的现有矛盾文献一致。有必要进行更大样本量和不同人群的进一步研究,以阐明这些变异在CAD发病机制中的作用。

相似文献

本文引用的文献

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Factor V Leiden.因子 V 莱顿突变。
Am J Hematol. 2016 Jan;91(1):46-9. doi: 10.1002/ajh.24222. Epub 2015 Nov 17.

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