title: Joint effects of alcohol consumption and ABCG2 Q141K on chronic tophaceous gout risk.
abstract: OBJECTIVE
  To investigate the joint effects of alcohol consumption and ABCG2 gene variants on tophaceous gout occurrence.
  
  
  METHODS
  The V12M (rs2231137), Q126X (rs72552713), and Q141K (rs2231142) of the ABCG2 gene were genotyped among controls, nontophaceous, and tophaceous gout cases in Taiwanese Han (n=446, 77, 177) and Taiwan Aborigines (n=1105, 203, 330).
  
  
  RESULTS
  The missense variations V12M (C) and Q141K (T) significantly associated with tophaceous gout (p trend=4.08×10(-2), 9.00×10(-12) in Han; 1.81×10(-3), 9.34×10(-10) in Aborigines). The nonsense variation Q126X (T) exerted a significant effect only in Han (p=1.10×10(-2)), but not in Aborigines. In the prediction of tophaceous gout, the Q141K (T) OR were 1.51 in Han, 1.50 in Aborigines, and 1.55 (p=7.84×10(-5)) in pooled analysis when compared to nontophaceous gout. We found the joint effects of alcohol consumption and Q141K (T/T) highly associated with tophaceous gout (adjusted OR≥5.11; p≤7.78×10(-4)); specifically the ever drinkers carrying the Q141K (T/T; adjusted OR 25.05, p=9.21×10(-4) in Han; adjusted OR 14.87, p=1.08×10(-8) in Aborigines).
  
  
  CONCLUSIONS
  Our findings showed alcohol consumption and ABCG2 Q141K, independently and jointly, associated with the risk of chronic tophaceous gout.
authors.affiliation: From the Department of Public Health and Environmental Medicine, School of Medicine, College of Medicine, and Department of Accounting, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany; Environment-Omics-Disease Research Centre, and Graduate Institute of Integrated Medicine, and the Graduate Institute of Clinical Medical Science, China Medical University Hospital, Taichung, Taiwan; Division of Plastic Surgery, Department of Surgery, Kaohsiung Medical University Hospital; Division of Rheumatology, Allergy and Immunology, Department of Internal Medicine, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Kaohsiung, Taiwan.
authors.forename: Hung-Pin
authors.initials: HP
authors.lastname: Tu
authors.forename: Albert Min-Shan
authors.initials: AM
authors.lastname: Ko
authors.forename: Shang-Lun
authors.initials: SL
authors.lastname: Chiang
authors.forename: Su-Shin
authors.initials: SS
authors.lastname: Lee
authors.forename: Han-Ming
authors.initials: HM
authors.lastname: Lai
authors.forename: Chia-Min
authors.initials: CM
authors.lastname: Chung
authors.forename: Chung-Ming
authors.initials: CM
authors.lastname: Huang
authors.forename: Chien-Hung
authors.initials: CH
authors.lastname: Lee
authors.forename: Tzer-Min
authors.initials: TM
authors.lastname: Kuo
authors.forename: Mei-Jung
authors.initials: MJ
authors.lastname: Hsieh
authors.forename: Ying-Chin
authors.initials: YC
authors.lastname: Ko
mesh_terms: D000070997:ATP Binding Cassette Transporter, Subfamily G, Member 2; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D000368:Aged; D000428:Alcohol Drinking / Q000009:adverse effects*; D016022:Case-Control Studies; D002908:Chronic Disease; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006073:Gout / Q000209:etiology / Q000235:genetics*; D006801:Humans; D033461:Hyperuricemia / Q000209:etiology / Q000235:genetics*; D015994:Incidence; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D020125:Mutation, Missense; D009363:Neoplasm Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D018570:Risk Assessment; D013624:Taiwan
chemical_list: C116614:ABCG2 protein, human; D000070997:ATP Binding Cassette Transporter, Subfamily G, Member 2; D018528:ATP-Binding Cassette Transporters; D009363:Neoplasm Proteins
keywords: ABCG2 Q141K; ALCOHOL CONSUMPTION; TOPHACEOUS GOUT