ADH1B 近端启动子的变异影响表达。
Variation in the ADH1B proximal promoter affects expression.
机构信息
Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202-5122, United States.
出版信息
Chem Biol Interact. 2011 May 30;191(1-3):38-41. doi: 10.1016/j.cbi.2010.12.007. Epub 2010 Dec 17.
Abstract
The primary pathway of metabolism of dietary alcohol is via its oxidation in liver by alcohol dehydrogenases (ADH). Differences in the ADH enzyme activity or levels of enzyme present could affect the risk for alcoholism. Regulatory variations have been shown to affect the promoter activity and thereby affect the risk for alcoholism. In this study the functional effects of the two SNPs (rs1159918 and rs1229982) in the proximal promoter region of ADH1B that were associated with alcoholism were explored. We examined the effects of five naturally occurring haplotypes on the promoter activity. We observed that a C to A change at rs1229982 increased promoter activity 1.4-fold.
摘要
膳食酒精的主要代谢途径是通过肝脏中的酒精脱氢酶（ADH）氧化。ADH 酶活性或酶含量的差异可能会影响酗酒风险。已经表明调节变异会影响启动子活性，从而影响酗酒风险。在这项研究中，我们探讨了与酗酒相关的 ADH1B 近端启动子区域中的两个 SNP（rs1159918 和 rs1229982）的功能影响。我们检查了五个自然发生的单倍型对启动子活性的影响。我们观察到 rs1229982 处的 C 到 A 变化使启动子活性增加了 1.4 倍。
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