乙醛脱氢酶2（ALDH2）Glu504Lys等位基因的起源与传播
Origin and Spread of the ALDH2 Glu504Lys Allele.
作者信息
Zhang Xiaokai, Sun Aijun, Ge Junbo
机构信息
Department of Cardiology, Zhongshan Hospital, Fudan University, Shanghai Institute of Cardiovascular Diseases, Shanghai 200032, China.
Institute of Biomedical Sciences, Fudan University, Shanghai 200032, China.
出版信息
Phenomics. 2021 Sep 20;1(5):222-228. doi: 10.1007/s43657-021-00017-y. eCollection 2021 Oct.
Gene polymorphism of acetaldehyde dehydrogenase 2 (ALDH2), a key enzyme for alcohol metabolism in humans, can affect catalytic activity. The ALDH2 Glu504Lys mutant allele has a high-frequency distribution in East Asian populations and has been demonstrated to be associated with an increased risk of cardiovascular disease, stroke, and tumors. Available evidence suggests that the evolution of the ALDH2 gene has been influenced by multiple factors. Random mutations produce Glu504Lys, and genetic drift alters the frequency of this allele; additionally, environmental factors such as hepatitis B virus infection and high-elevation hypoxia affect its frequency through selective effects, ultimately resulting in a high frequency of this allele in East Asian populations. Here, the origin, selection, and spread of the ALDH2 Glu504Lys allele are discussed, and an outlook for further research is proposed to realize a precision medical strategy based on the genetic and environmental variations in ALDH2.
乙醛脱氢酶2（ALDH2）是人类酒精代谢的关键酶，其基因多态性会影响催化活性。ALDH2 Glu504Lys突变等位基因在东亚人群中具有高频分布，并且已被证明与心血管疾病、中风和肿瘤的风险增加有关。现有证据表明，ALDH2基因的进化受到多种因素的影响。随机突变产生Glu504Lys，基因漂变改变了该等位基因的频率；此外，诸如乙型肝炎病毒感染和高海拔缺氧等环境因素通过选择作用影响其频率，最终导致该等位基因在东亚人群中具有高频率。在此，讨论了ALDH2 Glu504Lys等位基因的起源、选择和传播，并提出了进一步研究的展望，以基于ALDH2的遗传和环境变异实现精准医疗策略。
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