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多基因风险评分在一般人群中的作用:当前状况和未来前景

Masato Takase^1,2, Atsushi Hozawa^1,2

¹Graduate School of Medicine, Tohoku University.

Journal of atherosclerosis and thrombosis

|July 6, 2025

概括

多基因风险评分 (PRS) 显示出预测动脉样硬化心血管疾病 (ASCVD) 的前景. 然而,它们在东亚人群中的有效性,如日本人群,需要进一步验证,以获得公平的临床使用.

科学领域:

遗传学是一个遗传学.
心脏病学心脏病学
流行病学流行病学

背景情况:

多基因风险评分 (PRS) 是从常见的单核酸多形态 (SNP) 开发出来的,用于预测未来的动脉样硬化心血管疾病 (ASCVD).
PRS显示与ASCVD结果的独立关联,支持他们考虑加强风险分层和初级预防.
目前对PRS的证据主要来自欧洲祖先种群,这引发了人们对包括东亚人在内的其他祖先的概括性的担忧.

研究的目的:

审查关于PRS和ASCVD结果之间的相关性流行病学证据,特别关注日本队列.
讨论PRS作为决策支持工具的潜在临床实用性及其与传统风险因素相比的附加值.
突出进一步研究的需要,特别是对像日本这样多样化的人口进行前性研究,以验证和实施PRS.

主要方法:

对检查PRS和ASCVD结果之间的关联的流行病学研究进行系统审查.
专注于在日本人群中进行的研究,以评估PRS的概括性和临床实用性.
与已确定的心血管风险因素相比,PRS的增量值的分析.

主要成果:

有证据表明,PRS与ASCVD结果有关,但其在非欧洲人群中的表现,包括日本人群,不那么确立.
在日本人口中存在有限的前性研究,正在进行验证和实施工作.
审查强调了PRS的潜力,以补充传统的风险评估,以便早期识别高风险个体.

结论:

进一步的大规模研究对于评估PRS在不同人群中的临床效用至关重要,特别是在东亚人群中.
扩大祖先特定生物库和提高PRS可转移性对于ASCVD预防中公平的基因组风险预测至关重要.
目前正在日本人口中进行验证和实施研究,旨在将PRS纳入临床实践.

关键词:

动脉样硬化心血管疾病.流行病学流行病学遗传学是一个遗传学.日本日本日本日本日本.多基因风险评分多基因风险评分.主要预防主要预防.

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