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BACKGROUND AND AIMS: Genetic polymorphisms in alcohol dehydrogenase 1 B (ADH1B) and aldehyde dehydrogenase 2 (ALDH2) modify susceptibility to alcoholic cirrhosis. This study investigated the association between the polymorphisms and patients' self-recognition of their genetic predisposition. METHODS: We enrolled 50 patients with alcoholic cirrhosis, 46 patients with nonalcoholic cirrhosis, and 25 healthy controls without liver disease between January 2024 and March 2025. The ADH1B and ALDH2 genotypes were determined from dried saliva samples using SNP analysis, and the participants predicted their genotypes prior to testing. RESULTS: Self-recognition accuracy was 70.0% for alcoholic cirrhosis, 89.1% for nonalcoholic cirrhosis, and 92.0% for controls (p < 0.05). ALDH2 wild-type was present in 90.0% of patients with alcoholic cirrhosis versus 30.4% of patients with nonalcoholic cirrhosis (p < 0.01). The inactive ALDH2 genotype (*2/*2) was observed in 6.5% of patients with nonalcoholic cirrhosis, but not in those with alcoholic cirrhosis. CONCLUSIONS: ALDH2 wild-type was associated with alcoholic cirrhosis; however, 30% of patients misjudged their genotypes. Early genetic screening may improve self-awareness and contribute to preventive strategies for alcoholic cirrhosis.
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Tadokoro et al. (2025) studied this question.
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