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The objective of the present study was to determine whether there was an association between single nucleotide polymorphisms (SNPs) in  ABCG2  and gout. We recruited 333 participants including 210 patients with gout and 123 controls and genotyped 45 SNPs in both cohorts. We found that 24 SNPs in  ABCG2  are susceptibility loci associated with gout. Haplotype analysis revealed five blocks across the  ABCG2  locus were associated with an increased risk of gout with odds ratios (ORs) from 2.59–3.17 (all  P  < 0.0001). A novel finding in the present study was the identification of rs3114018 in block 3 and its association with increased gout risk. We found that the rs2231142T allele in block 2 and the rs3114018C-rs3109823T (C-T) risk haplotype in block 3 conferred the greatest evidence of association to gout risk ( P  = 1.19 × 10 −12  and  P  = 9.20 × 10 −11 , respectively). Our study provides an improved understanding of  ABCG2  variations in patients with gout and, as shown by haplotype analysis, that  ABCG2  may have a role in gout susceptibility.

A comprehensive analysis of the association of common variants of ABCG2 with gout