ADH1B and ALDH2 polymorphisms and their associations with increased risk of squamous cell carcinoma of the head and neck in the Korean population

Summary Alcohol consumption is a major risk factor for squamous cell carcinoma of the head and neck (SCCHN). Alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH) are key enzymes in ethanol metabolism. The objective of this study was to investigate the relationships of ADH and ALDH single nucleotide polymorphisms (SNPs) with the risk of developing SCCHN in a Korean sample. We genotyped ADH1B +3170A>G (rs1229984) and ALDH2 +1951G>A (rs671) SNPs in 225 Korean SCCHN patients and 301 healthy controls by single base extension and TaqMan assay. The frequencies of the ADH1B +3170A>G ( ∗ 2 ∗ 2/ ∗ 2 ∗ 1/ ∗ 1 ∗ 1) genotypes were 48.0%/38.7%/13.3% in SCCHN patients, and 57.8%/37.2%/5.0% in controls, respectively. The odds ratio (OR) and 95% confidence interval of the ADH1B ∗ 1 ∗ 1 genotype was 1.89 (1.23–2.92) relative to the ∗ 2 ∗ 2 genotype. The frequencies of the ALDH2 +1951G>A ( ∗ 1 ∗ 1/ ∗ 1 ∗ 2/ ∗ 2 ∗ 2) genotypes were 67.6%/31.6%/0.9% in SCCHN patients, and 67.8%/29.6%/2.7% in controls, respectively. In subgroup analyses according to smoking and alcohol drinking status, the OR of the ADH1B ∗ 1 ∗ 1 genotype was increased in the heavy drinker group [8.85 (1.095–40.0)] and in the heavy smoker group [4.7 (1.54–14.29)]. We conclude that the ADH1B ∗ 1 ∗ 1 genotype is associated with an increased risk of SCCHN, especially in heavy drinkers and heavy smokers. This genotype could be a useful biomarker for identifying Koreans with a greater risk of SCCHN.