Department of Genetics and Molecular Biology, Faculty of Biotechnology, Thai Nguyen University of Sciences, Thai Nguyen University, Thai Nguyen Province, Vietnam.
Department of Biochemistry, Faculty of Foundation Medicine, Thai Nguyen University of Medicine and Pharmacy, Thai Nguyen University, Thai Nguyen province, Vietnam.
Asian Pac J Cancer Prev. 2023 Jun 1;24(6):2073-2082. doi: 10.31557/APJCP.2023.24.6.2073.
Alcohol abuse can cause developing cirrhosis, even liver cancer. Several single nucleotide polymorphisms (SNPs) of ADH1B, ADH1C, and ALDH2 genes have been reported to be associated with alcohol abuse and alcoholic cirrhosis (ALC). This study investigated the association between three SNPs of ADH1B rs1229984, ADH1C rs698, and ALDH2 rs671 with alcohol abuse and ALC in people living in the Northeast region of Vietnam.
306 male participants were recruited including 206 alcoholics (106 ALC, 100 without ALC) and 100 healthy non-alcoholics. Clinical characteristics were collected by clinicians. Genotypes were identified by Sanger sequencing. Chi-Square (χ2) and Fisher-exact tests were used to assess the differences in age and clinical characteristics, Child-Pugh score, frequencies of alleles and genotypes.
Our data showed that the frequency of ALDH21 was significantly higher in alcoholics (88.59%) and ALC groups (93.40%) than that of healthy non-alcoholics (78.50%) with p=0.0009 and non-ALC group (83.50%) with p=0.002, respectively. We detected opposite results when examined ALDH22. Frequency of combined genotypes with high acetaldehyde accumulation were significantly lower in alcoholics and ALC group than those of control groups with p=0.005 and p=0.008, respectively. Meanwhile, the proportion of combined genotypes with non-acetaldehyde accumulation were significantly two times higher in the ALC group (19.98%) than those of the non-ALC group (8%) with p=0.035. These combined genotypes showed a decreasing trend in the Child-Pugh score from likely phenotype causing risk for non-acetaldehyde accumulation to high acetaldehyde accumulation.
The ALDH21 allele was found as a risk factor for alcohol abuse and ALC, and combined genotypes of ADH1B rs1229984, ADH1C rs698, and ALDH2 rs671 with non-acetaldehyde accumulation increase ALC risk. In contrast, ALDH22 and the genotype combinations related to high acetaldehyde accumulation were protective factors against alcohol abuse and ALC.
酗酒可导致肝硬化，甚至肝癌。已有研究报道，乙醇脱氢酶 1B（ADH1B）、ADH1C 和乙醛脱氢酶 2（ALDH2）基因的几个单核苷酸多态性（SNP）与酗酒和酒精性肝硬化（ALC）相关。本研究旨在探讨越南东北地区人群中 ADH1B 的 rs1229984、ADH1C 的 rs698 和 ALDH2 的 rs671 三个 SNP 与酗酒和 ALC 的关系。
共招募了 306 名男性参与者，包括 206 名酗酒者（106 名 ALC，100 名非 ALC）和 100 名健康非酗酒者。临床特征由临床医生收集。通过 Sanger 测序确定基因型。卡方（χ2）和 Fisher 精确检验用于评估年龄和临床特征、Child-Pugh 评分、等位基因和基因型频率的差异。
我们的数据显示，酗酒者（88.59%）和 ALC 组（93.40%）中 ALDH21 的频率明显高于健康非酗酒者（78.50%），p=0.0009 和非-ALC 组（83.50%），p=0.002。当检查 ALDH22 时，我们得到了相反的结果。酗酒者和 ALC 组中高乙醛蓄积的联合基因型频率明显低于对照组，p=0.005 和 p=0.008。同时，ALC 组中无乙醛蓄积的联合基因型比例明显高于非-ALC 组（19.98%比 8%），p=0.035。这些联合基因型的 Child-Pugh 评分从非乙醛蓄积的可能表型导致的风险降低到高乙醛蓄积的风险。
ALDH21 等位基因被认为是酗酒和 ALC 的危险因素，ADH1B rs1229984、ADH1C rs698 和 ALDH2 rs671 与无乙醛蓄积的联合基因型增加了 ALC 的风险。相反，ALDH22 和与高乙醛蓄积相关的基因型组合是酗酒和 ALC 的保护因素。
