GPVI与湖北地区汉族人群冠状动脉疾病发生风险的关联研究

吴莹莹; 唐亮; 邓君; 刘敬迪; 汪清云; 程志鹏; 胡蓓; 杨焰; 秦铀; 胡豫

doi:10.13201/j.issn.1004-2806.2016.03.006

GPVI与湖北地区汉族人群冠状动脉疾病发生风险的关联研究

- 1 华中科技大学附属协和医院血研所(武汉, 430022);
- 2 华中科技大学附属协和医院肿瘤中心
基金项目:
国家自然科学基金(No:81370622,81400099,81202962)

详细信息

通讯作者: 胡豫,E-mail:dr_huyu@126.com

中图分类号: R543.3

收稿日期: 2015-11-11

Research on the genetic relationship between GPVI and coronary artery disease in Hubei Han population

- 1 Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China;
- 2 Cancer Centre, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology

More Information

Corresponding author: HU Yu, E-mail: dr_huyu@126.com

Received Date: 11 November 2015

摘要

摘要: 目的: 冠状动脉疾病(CAD)是威胁人类健康的主要疾病之一。血小板的活化及其与细胞外基质的粘附在CAD的发生、发展中发挥重要的作用。GPVI基因编码的GPα2β1是一种血小板膜蛋白,通过Ca²⁺离子通道传导信号引起血小板聚集而形成血栓。湖北地区汉族人群中关于CAD易感基因的分子特征尚不明确。因此,我们开展了编码GPα2β1血小板膜蛋白的GPVI基因与CAD易感性的相关研究。方法: 将102例CAD患者GPVI基因的启动子区、外显子区、剪切区及非翻译区进行重测序,查找引起CAD的致病突变;采用病例-对照研究评价c.940C>G(p.Pro314Ala)突变对CAD发生风险的优势比;并用生物信息学工具评价c.430G>A(p.Ala144Thr),c.655C>T(p.Pro219Ser),c.940C>G(p.Pro314Ala)突变的危害性。结果: 本研究发现,GPVI c.940C>G(p.Pro314Ala)与CAD不存在明显的相关性(OR=0.984,95%CI 0.746-1.298,P=0.90894)。结论: 本研究发现存在于湖北地区汉族人群中GPVI基因突变体c.940C>G(p.Pro314Ala)可能不是导致CAD患病风险增加的遗传学因素。
- 冠状动脉疾病 /
- GPVI /
- 基因突变
Abstract: Objective: Coronary artery disease (CAD) is one of the major diseases that threaten human health.Platelet activation and extracellular matrix adhesion play a significant role in the occurrence and progress of CAD.GPα2β1 coded by GPVI leads to thrombosis through platelet aggregation and Ca²⁺ signaling.Molecular character of susceptibility of CAD in Hubei Han population is unknown.Therefore,we carried out a susceptibility research on the association between the gene GPVI encoding GPα2β1 platelet membrane protein and CAD.Method: Genetic mutation was identified by direct genomic DNA sequencing in un-translated regions,promoter regions,eight exons and flanking intronic regions of GPVI in 102 CAD patients.The odds ratio of c.940C>G (p.Pro314Ala) for CAD was measured in a case (CAD patients)-control study.The possible impact of amino acid substitutions c.430G>A (p.Ala144Thr),c.655C>T (p.Pro219Ser),c.940C>G (p.Pro314Ala) on the structure and function of the GPα2β1 platelet membrane protein were assessed through three bioinformatics tools.Result: GPVI c.940C>G (p.Pro314Ala) was not associated with CAD (OR=0.984,95%CI 0.746 to 1.298,P=0.908 94).Conclusion: GPVI c.940C>G (p.Pro314Ala) is not a genetic determinant of an increased risk of CAD in Hubei Han population.
- coronary artery disease /
- GPVI /
- gene mutation

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