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Elevated serum urate, which is regulated at multiple levels including genetic variants, is a risk factor for gout and other metabolic diseases. This study aimed to investigate the association between  UCP2  variants and serum urate as well as hyperuricemia in a Chinese population. In total, 4332 individuals were genotyped for two common  UCP2  variants, −866G/A and Ala55Val. These loci were not associated either serum urate level or with a risk of hyperuricemia in the total group of subjects. However, in females, −866G/A and Ala55Val were associated with a lower serum urate ( P  = 0.006 and 0.014, seperately) and played a protective role against hyperuricemia (OR = 0.80,  P  = 0.018; OR = 0.79,  P  = 0.016). These associations were not observed in the males. After further stratification, the two loci were associated with serum urate in overweight, but not underweight females. The haplotype A-T (−866G/A-Ala55Val) was a protective factor for hyperuricemia in the female subgroup (OR = 0.80,  P  = 0.017). This present study identified a novel gene,  UCP2 , that influences the serum urate concentration and the risk of hyperuricemia, and the degree of association varies with gender and BMI levels.

Common UCP2 variants contribute to serum urate concentrations and the risk of hyperuricemia