Abstract
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.
Highlights
Gout is an arthritis that is characterized by elevated serum uric acid level, recurrent acute arthritis, and chronic tophaceous gout[1,2,3]
ABCG2 is located at a gout-susceptibility locus on chromosome 4q22, which was previously identified in several genome-wide linkage studies of gout[7, 12, 20]
To verify further the impact of polymorphisms in genes related to gout, we studied common genetic variability in ABCG2 using a case-control study to clarify the association between single nucleotide polymorphisms (SNPs) or haplotypes at ABCG2 with the risk of gout in a Chinese population
Summary
Gout is an arthritis that is characterized by elevated serum uric acid level, recurrent acute arthritis, and chronic tophaceous gout[1,2,3]. In over 90 percent of patients, gout is caused by the under excretion of uric acid[1]. Genome-wide association studies (GWAS) that scan the genome for common genetic variants associated with gout have greatly advanced our medical knowledge[2, 6]. The majority of genes associated with serum urate levels or gout are involved in the renal urate-transport system. Recent GWAS have identified substantial associations between SNPs in ABCG2 and uric acid concentration and gout in different ethnic groups[2, 7]. To verify further the impact of polymorphisms in genes related to gout, we studied common genetic variability in ABCG2 using a case-control study to clarify the association between SNPs or haplotypes at ABCG2 with the risk of gout in a Chinese population
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