亚洲队列中的心肌病:遗传和表观遗传见解
Konstanze Tan1, Roger Foo2,3, Marie Loh1,4,5,6
1Lee Kong Chian School of Medicine, Nanyang Technological University, Clinical Sciences Building, Singapore (K.T., M.L.).
Circulation. Genomic and precision medicine
|August 17, 2023
概括
与西方国家不同的是,心肌病患病率在亚洲正在上升. 研究突出了亚洲人群中独特的遗传因素和表观遗传机制,这对于改善诊断和治疗至关重要.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
背景情况:
- 心肌病是导致心力衰竭的重要原因,亚洲人群与西方人群相比存在显著差异.
- 亚洲心肌病的患病率越来越高,与西方国家观察到的下降形成鲜明对比.
- 了解这些差异对于解决亚洲心力衰竭问题至关重要.
研究的目的:
- 审查导致亚洲人群心肌病的独特遗传和表观遗传因素.
- 突出需要进行祖先特定研究,以了解心肌病病理学和改善风险分层.
- 强调亚洲心肌病研究中的多组学方法的潜力.
主要方法:
- 审查有关心肌病的现有文献,重点关注亚洲人群的遗传和表观遗传研究.
- 分析亚裔和白人队伍之间心肌病发病率,临床特征和预后差异.
- 讨论与亚洲心肌病相关的DNA甲基化和多组学研究的发现.
主要成果:
- 亚洲心肌病患者表现出独特的遗传特征,包括更高的不确定意义的变体负担和新的亚洲特异性位置.
- 有证据表明,传统的分类标准可能低估了亚洲人群中变种的病原性.
- 表观遗传学研究,特别是DNA甲基化,为表型变异性和疾病机制提供了洞察力.
结论:
- 亚洲的心肌病带来了独特的遗传和表观遗传挑战,需要专门的研究.
- 结合遗传,甲基化和转录基因数据的未来多组学研究对于开发亚洲祖先特定见解至关重要.
- 通过以祖先为重点的研究,可以改善亚洲心肌病患者的风险分层和向治疗.
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