SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout

Vitart, Veronique and Rudan, Igor and Hayward, Caroline and Gray, Nicola K. and Floyd, James and Palmer, Colin N. A. and Knott, Sara A. and Kolcic, Ivana and Polasek, Ozren and Graessler, Juergen and Wilson, James F. and Marinaki, Anthony and Riches, Philip L. and Shu, Xinhua and Janićijević, Branka and Smolej Narančić, Nina and Gorgoni, Barbara and Morgan, Joanne and Campbell, Susan and Biloglav, Zrinka and Barac-Lauc, Lovorka and Pericic, Marijana and Martinovic Klaric, Irena and Zgaga, Lina and Skaric-Juric, Tatjana and Wild, Sarah H. and Richardson, William A. and Hohenstein, Peter and Kimber, Charley H. and Tenesa, Albert and Donnelly, Louise A. and Fairbanks, Lynette D. and Aringer, Martin and McKeigue, Paul M. and Ralston, Stuart H. and Morris, Andrew D. and Rudan, Pavao and Hastie, Nicholas D. and Campbell, Harry and Wright, Alan F. (2008) SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nature genetics, 40 (4). pp. 437-442. ISSN 1061-4036 (Print), 1546-1718 (Online)

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Uric acid is the end product of purine metabolism in humans and great apes, which have lost hepatic uricase activity, leading to uniquely high serum uric acid concentrations (200?500 lM) compared with other mammals (3?120 lM)1. About 70% of daily urate disposal occurs via the kidneys, and in 5?25% of the human population, impaired renal excretion leads to hyperuricemia2. About 10% of people with hyperuricemia develop gout, an inflammatory arthritis that results from deposition of monosodium urate crystals in the joint. We have identified genetic variants within a transporter gene, SLC2A9, that explain 1.7?5.3% of the variance in serum uric acid concentrations, following a genome-wide association scan in a Croatian population sample. SLC2A9 variants were also associated with low fractional excretion of uric acid and/or gout in UK, Croatian and German population samples. SLC2A9 is a known fructose transporter3, and we now show that it has strong uric acid transport activity in Xenopus laevis oocytes.

Item Type: Article
Additional Information: Language: English.
Uncontrolled Keywords: SLC2A9 gene, uric acid, urate excretion, gout, genome-wide association study
Subjects: R Medicine > R Medicine (General)
R Medicine > RA Public aspects of medicine > RA0421 Public health. Hygiene. Preventive Medicine
Depositing User: Karolina Vranješ
Date Deposited: 02 Oct 2015 13:02
Last Modified: 02 Oct 2015 13:02

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