The renal urate transporter SLC17A1 locus: confirmation of association with gout

Arthritis Res Ther. 2012 Apr 27;14(2):R92. doi: 10.1186/ar3816.

Abstract

Introduction: Two major gout-causing genes have been identified, the urate transport genes SLC2A9 and ABCG2. Variation within the SLC17A1 locus, which encodes sodium-dependent phosphate transporter 1, a renal transporter of uric acid, has also been associated with serum urate concentration. However, evidence for association with gout is equivocal. We investigated the association of the SLC17A1 locus with gout in New Zealand sample sets.

Methods: Five variants (rs1165196, rs1183201, rs9358890, rs3799344, rs12664474) were genotyped across a New Zealand sample set totaling 971 cases and 1,742 controls. Cases were ascertained according to American Rheumatism Association criteria. Two population groups were studied: Caucasian and Polynesian.

Results: At rs1183201 (SLC17A1), evidence for association with gout was observed in both the Caucasian (odds ratio (OR) = 0.67, P = 3.0 × 10-6) and Polynesian (OR = 0.74, P = 3.0 × 10-3) groups. Meta-analysis confirmed association of rs1183201 with gout at a genome-wide level of significance (OR = 0.70, P = 3.0 × 10-8). Haplotype analysis suggested the presence of a common protective haplotype.

Conclusion: We confirm the SLC17A1 locus as the third associated with gout at a genome-wide level of significance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Female
  • Genetic Loci / genetics*
  • Genetic Variation / genetics
  • Genome-Wide Association Study*
  • Gout / ethnology*
  • Gout / genetics*
  • Humans
  • Male
  • Middle Aged
  • Organic Anion Transporters / genetics*
  • Sodium-Phosphate Cotransporter Proteins, Type I / genetics*
  • Young Adult

Substances

  • Organic Anion Transporters
  • SLC17A1 protein, human
  • Sodium-Phosphate Cotransporter Proteins, Type I
  • urate transporter