内蒙古通辽地区蒙古族人群VEGF受体2基因与冠心病的关联研究(2)
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内皮细胞损害或者功能障碍可以导致冠心病的发生,体内异常血管的生成亦可增加冠心病的风险[4]。VEGF和KDR通过很多作用机制去参与影响冠心病的发病过程[5]。本研究中关于KDR基因的三个SNP位点,其基因型的频率分别与HapMap数据库中报道的数据一致。KDR基因SNP-604T>C可以下调KDR的mRNA水平,进而降低血清中KDR蛋白的水平。SNP1192G>A和SNP1719T>A位点均可以影响VEGF与KDR的结合效率,使其结合量少,结合效率低。通过本研究的实验结果,我们可以推测KDR功能活性的降低与血管功能障碍有关(如内皮细胞损伤、异常的血管修复等),可以促进动脉粥样硬化性疾病的发生和发展过程。
4 结论
KDR基因上的3个多态性位点SNP-604、SNP1192和SNP1719通过影响KDR的表达和功能,与蒙古族患冠心病的遗传易感度相关,这可作为内蒙古地区蒙古族冠心病新的遗传危险标记。
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