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Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout
Proceedings of the National Academy of Sciences of the United States of America, 06/30/09

Woodward OM et al. – Data suggest that at least 10% of all gout cases in whites are attributable to common SNP rs2231142 in ATP-binding cassette, subfamily G, 2 (ABCG2) gene. With approximately 3 million US individuals suffering from often insufficiently treated gout, ABCG2 represents an attractive drug target.

Methods

GWAS to identify SNPs in a genomic region on chromosome 4 that associate with serum urate levels and gout, a consequence of elevated urate levels

Results

Functional assays showed that human ABCG2, encoded by the ABCG2 gene is a urate efflux transporter
Native ABCG2 is located in the brush border membrane of kidney proximal tubule cells, where it mediates renal urate secretion
Introduction of the mutation Q141K encoded by the common SNP rs2231142 resulted in 53% reduced urate transport rates vs wild-type
Data from a population-based study of 14,783 individuals support rs2231142 as the causal variant in this region
It shows highly significant associations with urate levels and gout

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