We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.
- Authors
Vitart, Veronique; Rudan, Igor; Hayward, Caroline; Gray, Nicola K; Floyd, James; Palmer, Colin N A; Knott, Sara A; Kolcic, Ivana; Polasek, Ozren; Graessler, Juergen; Wilson, James F; Marinaki, Anthony; Riches, Philip L; Shu, Xinhua; Janicijevic, Branka; Smolej-Narancic, Nina; Gorgoni, Barbara; Morgan, Joanne; Campbell, Susan; Biloglav, Zrinka; Barac-Lauc, Lovorka; Pericic, Marijana; Klaric, Irena Martinovic; Zgaga, Lina; Skaric-Juric, Tatjana; Wild, Sarah H; Richardson, William A; Hohenstein, Peter; Kimber, Charley H; Tenesa, Albert; Donnelly, Louise A; Fairbanks, Lynette D; Aringer, Martin; McKeigue, Paul M; Ralston, Stuart H; Morris, Andrew D; Rudan, Pavao; Hastie, Nicholas D; Campbell, Harry; Wright, Alan F
- Abstract
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 microM) compared with other mammals (3-120 microM). About 70% of daily urate disposal occurs via the kidneys, and in 5-25% of the human population, impaired renal excretion leads to hyperuricemia. 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 transporter, and we now show that it has strong uric acid transport activity in Xenopus laevis oocytes.
- Publication
Nature genetics, 2008, Vol 40, Issue 4, p437
- ISSN
1546-1718
- Publication type
Journal Article
- DOI
10.1038/ng.106