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乙醇脱氢酶在酒精代谢中发挥着氧化乙醇的作用.以往的许多研究发现,乙醇脱氢酶家族中的成员乙醇脱氢酶-1B(ADH1B)的蛋白表达量在多种肿瘤组织中呈现下降的趋势.为了探讨中国汉族人群中ADH1B基因启动子区多态性与结直肠癌易感性的关系,本研究在92例结直肠癌患者的癌旁组织中对ADH1B基因转录起始位点上游大小为2444 bp的启动子区进行了一代测序扫描,并结合千人基因组数据库中的208例中国汉族人群数据分析了ADH1B基因启动子区的多态性与结直肠癌易感性之间的关系.本研究组在该区域内共检测到8个多态位点,其中rs3811802位点与结直肠癌的易感性表现出极强的相关性(OR=2.136;95%CI=1.2~3.7;P=0.006).本研究认为,位于ADH1B基因启动子区的多态位点rs3811802是中国汉族人群中结直肠癌的风险位点.
Ethanol dehydrogenase plays a role in alcohol metabolism in alcohol oxidation.Many previous studies found that protein expression of alcohol dehydrogenase-1B (ADH1B), a member of the alcohol dehydrogenase family, decreased in many tumor tissues In order to investigate the relationship between polymorphism of ADH1B promoter region and susceptibility to colorectal cancer in Chinese Han population.This study investigated the relationship between the upstream size of ADH1B gene transcription start site in 92 paracancerous tissues of colorectal cancer patients A 2444 bp promoter region was sequenced and the association between ADH1B gene promoter polymorphism and susceptibility to colorectal cancer was analyzed based on data from 208 Chinese Han population in the Thousand Genome Database The research group detected a total of 8 polymorphic sites in this region, of which the rs3811802 locus showed a strong correlation with susceptibility to colorectal cancer (OR = 2.136; 95% CI = 1.2-3.7; P = 0.006 In our study, rs3811802, a polymorphism site located in the ADH1B promoter region, is a risk site for colorectal cancer in Chinese Han population.