新型血小板膜糖蛋白VI二态性是心肌梗塞的危险因素
S A Croft1, N J Samani, M D Teare
1Division of Genomic Medicine, University of Sheffield, Sheffield, UK.
Circulation
|September 26, 2001
概括
葡萄糖蛋白VI (GP VI) 的遗传变异影响心肌梗塞 (MI) 风险. GP VI 13254CC基因型与心脏病发作风险增加有关,特别是在老年人中以及与其他遗传因素相互作用时.
科学领域:
- 心血管遗传学 心血管遗传学
- 血小板生物学 血小板生物学
- 分子医学是分子医学.
背景情况:
- 葡萄糖蛋白VI (GP VI) 对于血小板激活和聚合至关重要.
- 在GP VI基因中的多态变异正在研究它们在心肌梗塞 (MI) 风险中的潜在作用.
研究的目的:
- 为了确定GP VI位点的遗传变异是否会增加心肌梗塞 (MI) 的风险.
主要方法:
- 分析GP VI基因的编码和非编码区域,使用聚合酶链反应和对形状敏感的凝电泳.
- 识别了十种二态,包括五种预测氨基酸替代.
- 使用后勤回归分析评估T13254C二形态对患者和对照人群中心脏病风险的贡献.
主要成果:
- 五种二态度预测了氨基酸替代,并确定了两个核心单元类型.
- 在GP VI T13254C二态化 (Ser219Pro) 显示了1.16的MI的等位基几率比 (OR).
- 13254CC基因型在女性,非吸烟者,老年人 (>60岁) 心脏病患者和携带β-纤维素-148T等位基因的患者中更为普遍.
- 在逻辑回归中,GP VI基因型和年龄 (P=0.005) 和β-纤维素原基因型 (P=0.035) 之间发现了显著的相互作用.
结论:
- GP VI 13254CC基因型与心肌梗塞 (MI) 的风险增加有关.
- 这种风险在老年人中特别高.
- GP VI 13254C等位基因与其他风险等位基因之间的相互作用可能进一步加剧心脏病发作风险.
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