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
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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
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
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