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SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout (CROSBI ID 137528)

Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija

Vitart, Veronique ; Rudan, Igor ; Hayward, Caroline ; Gray, Nicola K. ; Floyd, James ; Palmer, Colin N. A. ; Knott, Sara A. ; Kolcic, Ivana ; Polašek, Ozren ; Graessler, Juergen et al. SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout // Nature genetics, 40 (2008), 4; 437-442

Podaci o odgovornosti

Vitart, Veronique ; Rudan, Igor ; Hayward, Caroline ; Gray, Nicola K. ; Floyd, James ; Palmer, Colin N. A. ; Knott, Sara A. ; Kolcic, Ivana ; Polašek, Ozren ; Graessler, Juergen ; Wilson, James F. ; Marinaki, Anthony ; Riches, Philip L. ; Shu, Xinhua ; Janićijević, Branka ; Smolej-Narančić, Nina ; Gorgoni, Barbara ; Morgan, Joanne ; Campbell, Susan ; Biloglav, Zrinka ; Barać-Lauc, Lovorka ; Peričić, Marijana ; Martinović-Klarić, Irena ; Zgaga, Lina ; Škarić-Jurić, Tatjana ; Wild, Sarah H. ; Richardson, William A. ; Hohenstein, Peter ; Kimber, Charley K. ; 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.

engleski

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

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.

SLC2A9 gene; uric acid; urate excretion; gout; genome-wide association study

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Podaci o izdanju

40 (4)

2008.

437-442

objavljeno

1061-4036

Povezanost rada

Temeljne medicinske znanosti, Javno zdravstvo i zdravstvena zaštita, Etnologija i antropologija

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