遗传风险分数和西班牙裔心肌梗塞风险
1Department of Nutrition, Harvard School of Public Health, 665 Huntington Ave, Boston, MA 02115, USA. nhlqi@channing.harvard.edu
Circulation
|January 19, 2011
概括
白人冠心病的遗传标志物与西班牙裔的心肌梗塞 (MI) 风险有一定的关联. 遗传风险得分在这个人群中适度改善了心脏病发作预测.
科学领域:
- 遗传学 是一个遗传学.
- 心血管疾病流行病学
- 人口遗传学 人口遗传学
背景情况:
- 全基因组关联研究 (GWAS) 在欧洲祖先群体中确定了与冠心病 (CHD) 相关的遗传位置.
- 这项研究调查了这些遗传标记物对西班牙裔人口的可转移性,特别是对于非致命的急性心肌梗塞 (MI).
研究的目的:
- 为了评估先前识别的白人遗传风险因素与急性心肌梗塞 (MI) 在西班牙裔队列中的关联.
- 评估基因风险评分在改善西班牙裔人心脏病预测模型中的有用性.
主要方法:
- 在哥斯达黎加进行了一项病例控制研究,其中包括1989例首次非致命急性心脏病发作和2096例基于人口的对照.
- 14个单核酸多态 (SNP) 被基因型化,重点关注以前与白人心脏病相关的基因.
- 通过总结前3个相关的风险等位基因来制定遗传风险评分.
主要成果:
- 在3个独立位置的7个SNP在西班牙裔队列中显示出与MI的显著关联.
- 观察到 rs4977574 (CDKN2A/2B),rs646776 (CELSR2-PSRC1-SORT1) 和 rs501120 (CXCL12) 的关联最强.
- 将遗传风险得分添加到临床预测指标 (P=0.02) 时,显著改善了心脏病发作歧视,尽管接收器运行特征曲线下的面积增加很小 (0.67到0.68).
结论:
- 对心脏病发作风险的遗传影响在西班牙裔和白人人口之间显示出一致性和差异.
- 鉴定到的基因标记在西班牙裔人中对MI风险的歧视方面提供了适度的改善.
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