Ye Bo, Feng Jian, Pan Xiufeng, Yang Yu, Ji Chunyu, Cheng Ming, Cheng Yong, Shi Jianxin, Zhao Heng
Department of Thoracic Surgery, Shanghai Chest Hospital, Shanghai Jiaotong University , Shanghai, People's Republic of China .
Genet Test Mol Biomarkers. 2014 Jan;18(1):45-9. doi: 10.1089/gtmb.2013.0336. Epub 2013 Oct 4.
The genetic polymorphisms of the alcohol metabolizing enzymes alcohol dehydrogenase 1B (ADH1B) rs1229984 may modulate individual differences in alcohol oxidizing capability. A case-control study was conducted to evaluate the genetic effects of these functional single-nucleotide polymorphisms on the development of esophageal cancer.
Here, a total of 1001 esophageal squamous cell carcinoma (ESCC) cases and 1391 controls were recruited. Genotypes were determined by DNA sequencing. Differences in the distributions of demographic characteristics, selected variables, and genotypes of ADH1B rs1229984 variants between cases and controls were evaluated using the χ(2) test. Associations between ADH1B genotypes and the risk of esophageal cancer were estimated by computing the odds ratios (ORs) and their 95% confidence intervals (CIs) using logistic regression analyses for crude ORs and adjusted ORs when adjusting for age, gender, and tobacco use status.
There were no significant differences between ESCC patients and controls in terms of age and sex distributions, suggesting that the frequency matching was adequate. However, significantly, more smokers were presented among the ESCC cases than among controls (63.1% vs. 49.2%; p=2.14 × 10-11). Smokers had an increased risk for developing ESCC (adjusted OR=2.17, 95% CI=1.78-2.64). This result clearly indicated that smoking is a risk factor for the ESCC in our study population. We found that subjects carrying the rs1229984 GG genotype had significantly increased risk of ESCC (adjusted OR, 2.81; 95% CI, 2.18-3.62; p=1.05 × 10-15) compared with the AA genotype.
The functional polymorphisms ADH1B rs1229984 may contribute to susceptibility to esophageal cancer.
酒精代谢酶乙醇脱氢酶1B（ADH1B）rs1229984的基因多态性可能会调节个体在酒精氧化能力上的差异。开展了一项病例对照研究，以评估这些功能性单核苷酸多态性对食管癌发生发展的遗传效应。
本研究共纳入1001例食管鳞状细胞癌（ESCC）病例和1391例对照。通过DNA测序确定基因型。使用χ²检验评估病例组和对照组在人口统计学特征、选定变量以及ADH1B rs1229984变体基因型分布上的差异。通过逻辑回归分析计算比值比（OR）及其95%置信区间（CI），以估计ADH1B基因型与食管癌风险之间的关联，计算粗OR以及在调整年龄、性别和吸烟状况后的调整OR。
ESCC患者和对照组在年龄和性别分布方面无显著差异，表明频率匹配是充分的。然而，值得注意的是，ESCC病例中的吸烟者明显多于对照组（63.1%对49.2%；p = 2.14×10⁻¹¹）。吸烟者患ESCC的风险增加（调整后的OR = 2.17，95% CI = 1.78 - 2.64）。这一结果清楚地表明，在我们的研究人群中，吸烟是ESCC的一个风险因素。我们发现，与AA基因型相比，携带rs1229984 GG基因型的受试者患ESCC的风险显著增加（调整后的OR，2.81；95% CI，2.18 - 3.62；p = 1.05×10⁻¹⁵）。
功能性多态性ADH1B rs1229984可能导致食管癌易感性。
