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1
Hyperuricemia, cardiovascular disease, and the metabolic syndrome.高尿酸血症、心血管疾病与代谢综合征。
J Rheumatol. 2009 Dec;36(12):2842-3; author reply 2844. doi: 10.3899/jrheum.090500.
2
Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout.鉴定出一种尿酸转运蛋白ABCG2,其具有导致痛风的常见功能多态性。
Proc Natl Acad Sci U S A. 2009 Jun 23;106(25):10338-42. doi: 10.1073/pnas.0901249106. Epub 2009 Jun 8.
3
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.三个基因位点与尿酸浓度及痛风风险的关联:一项全基因组关联研究
Lancet. 2008 Dec 6;372(9654):1953-61. doi: 10.1016/S0140-6736(08)61343-4. Epub 2008 Oct 1.
4
SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.溶质载体家族2成员9(SLC2A9)是一种新发现的尿酸转运蛋白,可影响血清尿酸浓度、尿酸排泄及痛风。
Nat Genet. 2008 Apr;40(4):437-42. doi: 10.1038/ng.106. Epub 2008 Mar 9.
5
SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.溶质载体家族2成员9(SLC2A9)影响尿酸浓度,且具有显著的性别特异性效应。
Nat Genet. 2008 Apr;40(4):430-6. doi: 10.1038/ng.107. Epub 2008 Mar 9.
6
The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.GLUT9基因与撒丁岛和基安蒂人群的血清尿酸水平相关。
PLoS Genet. 2007 Nov;3(11):e194. doi: 10.1371/journal.pgen.0030194.
7
IMPAIRMENT OF URIC ACID EXCRETION IN GOUT.痛风患者尿酸排泄受损。
J Clin Invest. 1962 Nov;41(11):1955-63. doi: 10.1172/JCI104653.
8
Association of the human urate transporter 1 with reduced renal uric acid excretion and hyperuricemia in a German Caucasian population.在德国白种人群中,人类尿酸转运蛋白1与肾脏尿酸排泄减少及高尿酸血症的关联。
Arthritis Rheum. 2006 Jan;54(1):292-300. doi: 10.1002/art.21499.
9
Overview of hyperuricaemia and gout.高尿酸血症与痛风概述
Curr Pharm Des. 2005;11(32):4117-24. doi: 10.2174/138161205774913318.
10
Renal underexcretion of uric acid is present in patients with apparent high urinary uric acid output.尿酸排泄减少存在于尿尿酸排出量明显较高的患者中。
Arthritis Rheum. 2002 Dec 15;47(6):610-3. doi: 10.1002/art.10792.

提出一种识别低肾脏尿酸清除表型的方法。

A proposal for identifying the low renal uric acid clearance phenotype.

机构信息

Faculty of Medicine, University of New South Wales, NSW, 2052, Australia.

出版信息

Arthritis Res Ther. 2010;12(6):149. doi: 10.1186/ar3191. Epub 2010 Dec 16.

DOI:10.1186/ar3191
PMID:21162713
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3046522/
Abstract

Investigation of the genetic basis of hyperuricaemia is a subject of intense interest. However, clinical studies commonly include hyperuricaemic patients without distinguishing between 'over-producers' or 'under-excretors' of urate. The statistical power of studies of genetic polymorphisms of genes encoding renal urate transporters is diluted if 'over-producers' of uric acid are included. We propose that lower than normal fractional renal clearance of urate is a better inclusion criterion for these studies. We also propose that a single daytime spot urine sample for calculation of fractional renal clearance of urate should be preferred to calculation from 24-hour urine collections.

摘要

高尿酸血症的遗传基础研究是一个热点。然而,临床研究通常包括高尿酸血症患者,但并未区分尿酸“生成过多者”或“排泄过少者”。如果将尿酸“生成过多者”纳入研究,那么对编码肾脏尿酸转运蛋白的基因遗传多态性的研究的统计效力将会受到稀释。我们建议,低于正常的尿酸肾部分清除率是这些研究更好的纳入标准。我们还建议,单次日间尿样用于尿酸肾部分清除率的计算应优于 24 小时尿收集的计算。