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.