the slc2a9 nonsynonymous arg265his variant and gout evidence for a population-specific effect on severity的slc2a9产生arg265his变体和痛风的证据一个特定人群的影响程度.pdfVIP

Hollis-Moffatt et al. Arthritis Research Therapy 2011, 13:R85 /content/13/3/R85 RESEARCH ARTICLE Open Access The SLC2A9 nonsynonymous Arg265His variant and gout: evidence for a population-specific effect on severity 1 2 3 4 5 6 Jade E Hollis-Moffatt , Peter J Gow , Andrew A Harrison , John Highton , Peter BB Jones , Lisa K Stamp , Nicola Dalbeth5 and Tony R Merriman1* Abstract Introduction: The C allele of the nonsynonymous Arg265His (rs3733591) variant of SLC2A9 confers risk for gout in Han Chinese, Solomon Island and Japanese samples, with a stronger role in tophaceous gout. There is no evidence for an association with gout in Caucasian populations. In the present study, we tested rs3733591 for association with gout in New Zealand (NZ) Māori, Pacific Island and Caucasian samples. Methods: Rs3733591 was genotyped across gout patients (n = 229, 232 and 327 NZ Māori, Pacific Island and Caucasian samples, respectively) and non-gout controls (n = 343, 174 and 638 Māori, Pacific Island and Caucasian samples, respectively). Further Caucasian sample sets consisting of 67 cases and 4,712 controls as well as 153 cases and 6,969 controls were obtained from the Framingham Heart Study and the Atherosclerosis Risk in Communities study, respectively. The Polynesian samples were analyzed according to Eastern and Western Polynesian ancestry. Results: No evidence for risk conferred by the C allele of rs3733591 with gout was found in the sample sets of NZ Māori (odd ratio (OR) = 0.98, P = 0.86), Eastern Polynesians (OR = 0.99, P = 0.92), Western Polynesians (OR = 1.16, P = 0.36) or combined Caucasians (OR = 1.15, P = 0.13). The C allele was significantly overrepresented in Māori tophaceous cases compared to cases