the renal urate transporter slc17a1 locus confirmation of association with gout肾尿酸盐转运slc17a1轨迹与痛风的确认.pdfVIP

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the renal urate transporter slc17a1 locus confirmation of association with gout肾尿酸盐转运slc17a1轨迹与痛风的确认.pdf

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the renal urate transporter slc17a1 locus confirmation of association with gout肾尿酸盐转运slc17a1轨迹与痛风的确认

Hollis-Moffatt et al. Arthritis Research & Therapy 2012, 14:R92 /content/14/2/R92 RESEARCH ARTICLE Open Access The renal urate transporter SLC17A1 locus: confirmation of association with gout 1† 1† 2 3 3 4 Jade E Hollis-Moffatt , Amanda J Phipps-Green , Brett Chapman , Gregory T Jones , Andre van Rij , Peter J Gow , 5 3 6 2 7 6 Andrew A Harrison , John Highton , Peter B Jones , Grant W Montgomery , Lisa K Stamp , Nicola Dalbeth and Tony R Merriman 1* 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, r 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 sugge