对心血管弹性的全基因组协会研究确定了CETP基因的保护性变异
Chenglong Yu1, Andrew Bakshi1, Gerald F Watts2,3
1School of Public Health and Preventive Medicine Monash University Melbourne VIC Australia.
Journal of the American Heart Association
|November 6, 2023
概括
对动脉样硬化心血管疾病 (ASCVD) 具有弹性的老年人可能具有心脏保护性遗传变异. 研究人员确定了特定的胆固醇转移蛋白 (CETP) 基因变异,与老年人群中的心血管弹性有关.
科学领域:
- 遗传学和心血管疾病
- 老龄化和健康问题
- 药物基因组学 药物基因组学
背景情况:
- 动脉样性心血管疾病 (ASCVD) 的风险随着年龄的增长而显著增加.
- 尽管预测风险高,但一些老年人表现出对ASCVD的弹性,这表明了潜在的保护因素.
- 心脏保护性遗传变异可能有助于老年人群中ASCVD弹性.
研究的目的:
- 调查无症状的老年人是否携带心脏保护性遗传变异.
- 为了评估基因变异和ASCVD弹性之间的关联在老龄化队列中.
主要方法:
- 全基因组关联研究 (GWAS) 对10年预测ASCVD风险评分的无症状个体,年龄≥70岁,没有ASCVD.
- 在ASPREE试验中,在12,031名ASCVD无事件的个体中发现了GWAS,识别了胆固醇转移蛋白 (CETP) 基因的变异.
- 在13,888名英国生物库个体的子群体中复制发现,年龄≥69岁,没有流行ASCVD.
主要成果:
- 在CETP基因中发现并复制了两个独立的变异 (rs9939224和rs56156922).
- 这些CETP变体的携带者表现出更高的高密度脂蛋白胆固醇,更低的低密度脂蛋白胆固醇,以及降低发生ASCVD风险.
- 表达量的定量特征位置分析表明,这些变异降低了CETP基因表达;没有观察到与年龄相关的黄斑变性风险增加.
结论:
- 在CETP基因区域内的常见遗传变异与衰老期间心血管弹性增强有关.
- 这些发现突出了CETP在调解ASCVD性方面的作用,并提出了潜在的治疗目标.
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