Tu Hung-Pin, Ko Albert Min-Shan, Chiang Shang-Lun, Lee Su-Shin, Lai Han-Ming, Chung Chia-Min, Huang Chung-Ming, Lee Chien-Hung, Kuo Tzer-Min, Hsieh Mei-Jung, Ko Ying-Chin
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.
J Rheumatol. 2014 Apr;41(4):749-58. doi: 10.3899/jrheum.130870. Epub 2014 Feb 15.
To investigate the joint effects of alcohol consumption and ABCG2 gene variants on tophaceous gout occurrence.
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).
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).
Our findings showed alcohol consumption and ABCG2 Q141K, independently and jointly, associated with the risk of chronic tophaceous gout.
探讨饮酒与ABCG2基因变异对痛风石性痛风发生的联合影响。
对台湾汉族（n = 446、77、177）和台湾原住民（n = 1105、203、330）中的对照组、非痛风石性痛风病例和痛风石性痛风病例进行ABCG2基因的V12M（rs2231137）、Q126X（rs72552713）和Q141K（rs2231142）基因分型。
错义变异V12M（C）和Q141K（T）与痛风石性痛风显著相关（汉族中p趋势 = 4.08×10⁻²，9.00×10⁻¹²；原住民中1.81×10⁻³，9.34×10⁻¹⁰）。无义变异Q126X（T）仅在汉族中发挥显著作用（p = 1.10×10⁻²），在原住民中无显著作用。在痛风石性痛风预测中，与非痛风石性痛风相比，汉族中Q141K（T）的比值比（OR）为1.51，原住民中为1.50，合并分析中为1.55（p = 7.84×10⁻⁵）。我们发现饮酒与Q141K（T/T）的联合作用与痛风石性痛风高度相关（校正OR≥5.11；p≤7.78×10⁻⁴）；具体而言，携带Q141K（T/T）的既往饮酒者（汉族中校正OR 25.05，p = 9.21×10⁻⁴；原住民中校正OR 14.87，p = 1.08×10⁻⁸）。
我们的研究结果表明，饮酒和ABCG2基因的Q141K变异分别及联合起来均与慢性痛风石性痛风风险相关。
