全基因组关联研究（GWAS）鉴定出的位于ADH1B-ADH1C-ADH7基因簇中的食管癌易感性基因多态性的重复研究。
Replication study of ESCC susceptibility genetic polymorphisms locating in the ADH1B-ADH1C-ADH7 cluster identified by GWAS.
作者信息
Wang Jiwen, Wei Jinyu, Xu Xiaoling, Pan Wenting, Ge Yunxia, Zhou Changchun, Liu Chao, Gao Jia, Yang Ming, Mao Weimin
机构信息
Cancer Research Institute, Zhejiang Cancer Hospital, Hangzhou, Zhejiang Province, China; Key Laboratory of Diagnosis and Treatment Technology on Thoracic Oncology, Zhejiang Province, China.
College of Life Science and Technology, Beijing University of Chemical Technology, Beijing, China.
出版信息
PLoS One. 2014 Apr 10;9(4):e94096. doi: 10.1371/journal.pone.0094096. eCollection 2014.
China was one of the countries with highest esophageal squamous cell carcinoma (ESCC) incidence and mortality worldwide. Alcohol drinking has been identified as a major environmental risk-factor related to ESCC. The alcohol dehydrogenase (ADH) family are major enzymes involved in the alcohol-metabolizing pathways, including alcohol dehydrogenase 1B (ADH1B) and ADH1C. Interestingly, ADH1B and ADH1C genes locate tandemly with ADH7 in a genomic segment as a gene cluster, and are all polymorphic. Several ESCC susceptibility single nucleotide polymorphisms (SNPs) of the ADH1B-ADH1C-ADH7 cluster have been identified previously through a genome-wide association study (GWAS). In the study, we examined the association between five ADH1B-ADH1C-ADH7 cluster SNPs (rs1042026, rs17033, rs1614972, rs1789903 and rs17028973) and risk of developing ESCC. Genotypes were determined in two independent case-control sets from two regions of China. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated by logistic regression. Our data demonstrated that these ADH1B-ADH1C-ADH7 cluster SNPs confer susceptibility to ESCC in these two case-control sets, which were consistent to results of the previous GWAS.
中国是全球食管鳞状细胞癌（ESCC）发病率和死亡率最高的国家之一。饮酒已被确认为与ESCC相关的主要环境风险因素。乙醇脱氢酶（ADH）家族是参与酒精代谢途径的主要酶，包括乙醇脱氢酶1B（ADH1B）和乙醇脱氢酶1C（ADH1C）。有趣的是，ADH1B和ADH1C基因在基因组片段中与ADH7串联定位形成一个基因簇，并且均具有多态性。先前通过全基因组关联研究（GWAS）已鉴定出ADH1B - ADH1C - ADH7簇的几个ESCC易感性单核苷酸多态性（SNP）。在本研究中，我们检测了五个ADH1B - ADH1C - ADH7簇SNP（rs1042026、rs17033、rs1614972、rs1789903和rs17028973）与发生ESCC风险之间的关联。在中国两个地区的两个独立病例对照集中确定了基因型。通过逻辑回归估计比值比（OR）和95%置信区间（CI）。我们的数据表明，在这两个病例对照集中，这些ADH1B - ADH1C - ADH7簇SNP赋予了ESCC易感性，这与先前GWAS的结果一致。
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