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Updated: May 5, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Diagnostic Impacts of Aldehyde Dehydrogenase 2 Genetic Variants on Hepatocellular Carcinoma Susceptibility
Yu-Ting Chin1,2, Ming-Hsien Wu3,4, Hou-Yu Shih1,2
1Graduate Institute of Biomedical Sciences, China Medical University, Taichung, Taiwan, R.O.C.
Background/Aim:
The role of alcohol consumption and aldehyde dehydrogenase 2 (ALDH2) genotype in hepatocellular carcinoma (HCC) development remains uncertain.
Materials And Methods:
We conducted genotyping of the ALDH2 rs671 single nucleotide polymorphism in 298 patients with HCC and 889 non-cancerous healthy controls. We assessed associations stratified by sex and alcohol consumption status.
Results:
Distribution of ALDH2 rs671 variant genotypes differed significantly between HCC patients and controls (ptrend=0.0311). Logistic regression analyses indicated that compared to the wild-type GG genotype, the heterozygous variant AG genotype and homozygous variant AA genotype conferred 1.22- and 1.77-fold increases in HCC risk (p=0.1794 and 0.0150, respectively). Allelic frequency analysis showed that the A allele was associated with a 1.29-fold increased HCC risk (p=0.0123). Additionally, AA genotype carriers had significantly higher HCC risk than GG genotype carriers among males (p=0.0145) and non-alcohol drinkers (p<0.001).
Conclusion:
HCC risk is influenced by ALDH2 genotype, with effects modified by sex and alcohol consumption. Particularly, individuals with the ALDH2 rs671 AA genotype should avoid alcohol consumption, especially males.
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