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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。
Purpose: Coronary artery disease (CAD) is one of the major diseases that threaten human health. Platelet activation and its adhesion to the extracellular matrix play an important role in the development and progression of CAD. The GPα2β1 gene, encoded by the GPVI gene, is a platelet membrane protein that triggers platelet aggregation through the Ca2 + ion channel to trigger thrombus formation. The molecular characteristics of CAD susceptibility genes in Han population in Hubei are not yet clear. Therefore, we performed a related study on the susceptibility of CAD to GPVI gene encoding GPα2β1 platelet membrane protein. Methods: The promoter region, exon region, cleavage region and untranslated region of GPVI gene in 102 patients with CAD were re-sequenced to find the pathogenic mutation causing CAD. The case-control study was used to evaluate the c.940C> G p.Pro314Ala) mutation in the risk of CAD; and bioinformatics tools were used to evaluate c.430G> A (p.Ala144Thr), c.655C> T (p.Pro219Ser), c.940C> G ) The danger of mutation. Results: This study found no significant association of GPVI c.940C> G (p.Pro314Ala) with CAD (OR = 0.984, 95% CI 0.746-1.298, P = 0.908 94). CONCLUSIONS: This study found that the presence of c.940C> G (p.Pro314Ala), a GPVI mutant in Chinese Han population in Hubei Province, may not be a genetic factor contributing to the increased risk of CAD.