冠状动脉疾病的遗传学

Fan Wang
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引用次数: 0

摘要

冠状动脉疾病(CAD)及其主要并发症心肌梗死(MI)是世界范围内死亡的主要原因,通常伴随冠状动脉壁粥样硬化斑块的积累而发生。CAD的遗传率估计在40% - 60%之间,表明遗传因素与其他传统危险因素(即脂质异常、吸烟、高血压、糖尿病和肥胖)对CAD风险的贡献相等或更重要[1]。在CAD的遗传学研究中,主要目标是确定导致CAD风险的致病变异、基因或遗传位点。考虑到许多危险因素也受到遗传因素的强烈调节,孟德尔随机化研究被设计用来评估危险因素对CAD的因果影响,单核苷酸多态性(snp)作为工具[2]。由于CAD的临床异质性,CAD的遗传结构尚未完全阐明。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetics of coronary artery disease
Coronary artery disease (CAD) and its major complication myocardial infarction (MI) are the leading causes of death worldwide, which often occurs with the accumulation of atherosclerotic plaques in the walls of the coronary arteries. The heritability of CAD has been estimated between 40% and 60%, indicating genetic factor holds an equal or more important contribution to risk of CAD with the other traditional risk factors (i.e., lipid abnormalities, smoking, hypertension, diabetes, and obesity) [1]. In the genetics studies of CAD, the primary goal is to identify causative variants, genes or genetic loci that contribute to the risk of CAD. Given the fact that many risk factors are also strongly are modulated by genetic factors, Mendelian Randomization studies have been designed to estimate causative effects of risk factors on CAD, singlenucleotide polymorphisms (SNPs) servers as instruments [2]. Due to the clinical heterogeneity of CAD, the genetic architecture of CAD is not fully elucidated yet.
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