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).
Conclusion: Our findings showed alcohol consumption and ABCG2 Q141K, independently and jointly, associated with the risk of chronic tophaceous gout.
Keywords: ABCG2 Q141K; ALCOHOL CONSUMPTION; TOPHACEOUS GOUT.