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Nat Genet. April 1, 2008; 40 (4): 437-42.

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

Vitart V , Rudan I , Hayward C , Gray NK , Floyd J , Palmer CN , Knott SA , Kolcic I , Polasek O , Graessler J , Wilson JF , Marinaki A , Riches PL , Shu X , Janicijevic B , Smolej-Narancic N , Gorgoni B , Morgan J , Campbell S , Biloglav Z , Barac-Lauc L , Pericic M , Klaric IM , Zgaga L , Skaric-Juric T , Wild SH , Richardson WA , Hohenstein P , Kimber CH , Tenesa A , Donnelly LA , Fairbanks LD , Aringer M , McKeigue PM , Ralston SH , Morris AD , Rudan P , Hastie ND , Campbell H , Wright AF .

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.

PubMed ID: 18327257
Article link: Nat Genet.
Grant support: Arthritis FoundationMedical Research CouncilWellcome TrustArthritis Research UK , CZB/4/710 Chief Scientist Office, G117/564 Medical Research Council , MC_PC_U127561128 Medical Research Council , MC_U127561111 Medical Research Council , MC_U127561128 Medical Research Council , MRC_MC_U127561128 Medical Research Council , MRC_G117/564 Medical Research Council , CSO_CZB/4/710 Chief Scientist Office, MRC_MC_U127561111 Medical Research Council

Genes referenced: slc2a9

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