Department of Medical Biochemistry, Medical School, University of Tampere, and Research Unit of the Laboratory Centre, Tampere University Hospital, Tampere, Finland.
Atherosclerosis. 2010 Jul;211(1):200-2. doi: 10.1016/j.atherosclerosis.2010.01.026. Epub 2010 Jan 28.
Association of estrogen receptor 1 (ESR1) gene variants and risk of coronary heart disease (CHD) and ischemic stroke was evaluated in the FINRISK-study. From 14,140 individuals, 2225 were selected for genotyping using a case-cohort design. Time-to-event analysis showed that the CC genotype of -397T/C ERS1 gene contributed to higher risk of CHD only in men (HR, 1.68, CI 1.03-2.74). The -351A/G polymorphism was not independently associated with CHD. Haplotype analysis of these two variants indicated that in men, haplotype TA conferred lower risk of CHD (HR=0.72, CI 0.55-0.95), whereas men with haplotype CA had 1.8 higher risk of CHD events (CI 1.21-2.77), compared to other haplotypes. No association was found with ischemic stroke. Our study suggests that the minor allele -397C of the ESR1 gene confers risk of CHD among Finnish men, both in homozygous state and as part of a haplotype with the -351A allele.
评估了雌激素受体 1 (ESR1) 基因变异与冠心病 (CHD) 和缺血性卒中的相关性，该研究基于 FINRISK 研究。采用病例-对照设计，从 14140 名个体中选择了 2225 名进行基因分型。时间事件分析表明，ESR1 基因-397T/C 处的 CC 基因型仅增加男性 CHD 的风险（HR, 1.68, CI 1.03-2.74）。-351A/G 多态性与 CHD 无独立相关性。对这两个变异的单体型分析表明，在男性中，单体型 TA 降低 CHD 的风险（HR=0.72, CI 0.55-0.95），而单体型 CA 的男性发生 CHD 事件的风险增加 1.8 倍（CI 1.21-2.77），与其他单体型相比。与缺血性卒中无关联。本研究表明，芬兰男性中 ESR1 基因的次要等位基因-397C 增加 CHD 的风险，无论是纯合状态还是与-351A 等位基因的单体型一起。
