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

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

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

Jade E Hollis-Moffatt et al. Arthritis Res Ther. .

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.

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Figures

Figure 1
Figure 1
Intermarker linkage disequilibrium for Caucasian and Chinese populations. Intermarker linkage disequilibrium r2 values for Caucasian (Centre d'Etude du Polymorphisme Humain; left) and Chinese (Han Chinese Beijing; right) populations. Approximate gene positions are shown. Diagram generated with Haploview using data from www.hapmap.org.

References

    1. Simmonds HA, McBride MB, Hatfield PJ, Graham R, McCaskey J, Jackson M. Polynesian women are also at risk for hyperuricaemia and gout because of a genetic defect in renal urate handling. Br J Rheumatol. 1994;33:932–937. - PubMed
    1. Merriman TR, Dalbeth N. The genetic basis of hyperuricaemia and gout. Joint Bone Spine. 2011;38:35–40. - PubMed
    1. Kolz M, Johnson T, Sanna S, Teumer A, Vitart V, Perola M, Mangino M, Albrecht E, Wallace C, Farrall M, Johansson A, Nyholt DR, Aulchenko Y, Beckmann JS, Bergmann S, Bochud M, Brown M, Campbell H. EUROSPAN Consortium; Connell J, Dominiczak A, Homuth G, Lamina C, McCarthy MI. ENGAGE Consortium. Meitinger T, Mooser V, Munroe P, Nauck M, Peden J. et al.Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet. 2009;5:e1000504. - PMC - PubMed
    1. Yang Q, Kottgen A, Dehghan A, Smith AV, Glazer NL, Chen MH, Chasman DI, Aspelund T, Eiriksdottir G, Harris TB, Launer L, Nalls M, Hernandez D, Arking DE, Boerwinkle E, Grove ML, Li M, Linda Kao WH, Chonchol M, Haritunians T, Li G, Lumley T, Psaty BM, Shlipak M, Hwang SJ, Larson MG, O'Donnell CJ, Upadhyay A, van Duijn CM. et al.Multiple genetic loci influence serum urate and their relationship with gout and cardiovascular disease risk factors. Circ Cardiovasc Genet. 2010;3:523–530. - PMC - PubMed
    1. Busch AE, Schuster A, Waldegger S, Wagner CA, Zempel G, Broer S, Biber J, Murer H, Lang F. Expression of a renal type I sodium/phosphate transporter (NaPi-1) induces a conductance in Xenopus oocytes permeable for organic and inorganic anions. Proc Natl Acad Sci USA. 1996;93:5347–5351. - PMC - PubMed

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