title: ADH1B and ALDH2 polymorphisms and their associations with increased risk of squamous cell carcinoma of the head and neck in the Korean population.
abstract: 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.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, College of Medicine, Hanyang University, Seongdong-Gu, Seoul, Republic of Korea.
authors.forename: Yong Bae
authors.initials: YB
authors.lastname: Ji
authors.forename: Kyung
authors.initials: K
authors.lastname: Tae
authors.forename: Tae Hwan
authors.initials: TH
authors.lastname: Ahn
authors.forename: Seung Hwan
authors.initials: SH
authors.lastname: Lee
authors.forename: Kyung Rae
authors.initials: KR
authors.lastname: Kim
authors.forename: Chul Won
authors.initials: CW
authors.lastname: Park
authors.forename: Byung Lae
authors.initials: BL
authors.lastname: Park
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Shin
mesh_terms: D000328:Adult; D000368:Aged; D000426:Alcohol Dehydrogenase / Q000235:genetics*; D000428:Alcohol Drinking / Q000009:adverse effects / Q000235:genetics; D000444:Aldehyde Dehydrogenase / Q000235:genetics*; D000071396:Aldehyde Dehydrogenase, Mitochondrial; D044466:Asian People / Q000235:genetics*; D002277:Carcinoma / Q000208:ethnology / Q000235:genetics*; D002294:Carcinoma, Squamous Cell; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006258:Head and Neck Neoplasms / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018307:Neoplasms, Squamous Cell / Q000208:ethnology / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D012907:Smoking / Q000009:adverse effects / Q000235:genetics; D000077195:Squamous Cell Carcinoma of Head and Neck
chemical_list: C489332:ADH1B protein, human; D000426:Alcohol Dehydrogenase; C096127:ALDH2 protein, human; D000444:Aldehyde Dehydrogenase; D000071396:Aldehyde Dehydrogenase, Mitochondrial