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- 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.; Xinhua Shu; Janicijevic, Branka; Smolej-Narancic, Nina; Gorgoni, Barbara; Morgan, Joanne; Campbell, Susan; Biloglav, Zrinka
- 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 μM) compared with other mammals (3–120 μM). 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.
- Subjects
URIC acid; PURINES; HYPERURICEMIA; GENES; BLOOD plasma; SERUM
- Publication
Nature Genetics, 2008, Vol 40, Issue 4, p437
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.106