Glu504Lys Single Nucleotide Polymorphism of Aldehyde Dehydrogenase 2 Gene and the Risk of Human Diseases.
Glu504Lys Single Nucleotide Polymorphism of Aldehyde Dehydrogenase 2 Gene and the Risk of Human Diseases.
复制标题
醛脱氢酶2基因Glu504Lys单核苷酸多态性与人类疾病风险
DOI：
10.1155/2015/174050
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发表时间：
2015
影响因子：
--
通讯作者：
Wang C
中科院分区：
文献类型：
--
作者：
Zhao Y;Wang C
乙醛脱氢酶（ALDH）2是一种线粒体酶，已知其在乙醇代谢产物乙醛的氧化和解毒中的重要作用。ALDH 2还代谢其他反应性醛，如4-羟基-2-壬烯醛和丙烯醛。在大约40%的东亚人群中发现的ALDH 2基因的Glu 504 Lys单核苷酸多态性（SNP）导致ALDH 2酶活性的缺陷，导致乙醛代谢的改变和酒精诱导的“潮红”综合征。有证据表明，ALDH 2 Glu 504 Lys SNP是多种慢性疾病如心血管疾病、癌症和迟发性阿尔茨海默病的潜在候选遗传风险因子。此外，ALDH 2 Glu 504 Lys SNP与这些慢性疾病的发展之间的关联似乎受到SNP与生活方式因素（如饮酒）之间的相互作用以及其他遗传变异的影响。
Aldehyde dehydrogenase (ALDH) 2 is a mitochondrial enzyme that is known for its important role in oxidation and detoxification of ethanol metabolite acetaldehyde. ALDH2 also metabolizes other reactive aldehydes such as 4-hydroxy-2-nonenal and acrolein. The Glu504Lys single nucleotide polymorphism (SNP) of ALDH2 gene, which is found in approximately 40% of the East Asian populations, causes defect in the enzyme activity of ALDH2, leading to alterations in acetaldehyde metabolism and alcohol-induced “flushing” syndrome. Evidence suggests that ALDH2 Glu504Lys SNP is a potential candidate genetic risk factor for a variety of chronic diseases such as cardiovascular disease, cancer, and late-onset Alzheimer's disease. In addition, the association between ALDH2 Glu504Lys SNP and the development of these chronic diseases appears to be affected by the interaction between the SNP and lifestyle factors such as alcohol consumption as well as by the presence of other genetic variations.