9号染色体上的一个常见的等位基因与冠状动脉心脏病相关
Ruth McPherson1, Alexander Pertsemlidis, Nihan Kavaslar
1Division of Cardiology, University of Ottawa Heart Institute, Ottawa K1Y4W7, Canada. rmcpherson@ottawaheart.ca
概括
染色体9p21上的特定基因区域与冠心病 (CHD) 风险有很强的联系. 这一通过全基因组关联扫描识别的发现影响了20-25%的高加索人,使他们的心血管疾病风险增加了30-40%.
科学领域:
- 遗传学 是一个遗传学.
- 心血管疾病流行病学
背景情况:
- 冠心病 (CHD) 是西方国家死亡的主要原因.
- 遗传倾向在心血管疾病的发展中起着重要作用.
研究的目的:
- 为了确定与冠状动脉心脏病 (CHD) 相关的遗传位置.
- 调查特定染色体区域与高加索人群中冠状动脉疾病风险之间的关联.
主要方法:
- 使用全基因组关联扫描 (GWAS).
- 分析了六个独立的高加索群体,共计23000多名参与者.
- 在染色体9p21上精细映射到58基基间隔.
主要成果:
- 在染色体9p21上的58基基间隔和CHD之间发现了一致的关联.
- 这个风险区间位于CDKN2A和CDKN2B基因附近.
- 风险等位基因的同胞,占高加索人群的20-25%,患心血管疾病的风险增加了30-40%.
- 确定的间隔与传统的心脏病风险因素 (如脂蛋白,高血压或糖尿病) 无关.
结论:
- 在染色体9p21上发现了一种冠状动脉心脏病的新型遗传风险位.
- 这种位点在高加索人口的很大一部分中显著增加了冠状动脉疾病的风险.
- 遗传风险似乎独立于常见的心血管风险因素.
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