%0 Journal Article
%T The renal urate transporter SLC17A1 locus: confirmation of association with gout
%A Jade E Hollis-Moffatt
%A Amanda J Phipps-Green
%A Brett Chapman
%A Gregory T Jones
%A Andre van Rij
%A Peter J Gow
%A Andrew A Harrison
%A John Highton
%A Peter B Jones
%A Grant W Montgomery
%A Lisa K Stamp
%A Nicola Dalbeth
%A Tony R Merriman
%J Arthritis Research & Therapy
%D 2012
%I BioMed Central
%R 10.1186/ar3816
%X 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.At rs1183201 (SLC17A1), evidence for association with gout was observed in both the Caucasian (odds ratio (OR) = 0.67, P = 3.0 กม 10-6) and Polynesian (OR = 0.74, P = 3.0 กม 10-3) groups. Meta-analysis confirmed association of rs1183201 with gout at a genome-wide level of significance (OR = 0.70, P = 3.0 กม 10-8). Haplotype analysis suggested the presence of a common protective haplotype.We confirm the SLC17A1 locus as the third associated with gout at a genome-wide level of significance.Regulation of serum urate concentration is central to the development of gout, with renal uric acid excretion a critical checkpoint [1]. Genome-wide association scans examining the genetic control of serum urate concentrations have identified two renal urate transporters - SLC2A9 and ABCG2 - that have a strong effect on gout risk in multiple ethnic groups [2]. Whilst other loci (SLC22A11, GCKR, INHBC, SLC17A1, RREB1, PDZK1, SLC16A9, LRRC16A) have been associated with serum urate concentrations at a genome-wide level of significance in genome-wide association scans [3,4], only some of them (SLC22A11, GCKR, INHBC, SLC17A1) were associated with gout at a nominal level of significance (P < 0.05) in 1,100 cases nested within a large genome-wide association scan population-based cohort [4]. To understand why some loci do not associate with gout, and to assess the weakly associated loci in clinical gout, it will be necessary to minimize heterogeneity owing to the type of gout (primary or secondary to other causes such as diuretic use) and to test for association in clinically proven cases.The solute carrier family 17 member 1 (encoded by SLC17A1), also known as sodium phosphate transport protein 1 (NPT
%U http://arthritis-research.com/content/14/2/R92