DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Urate levels. The EFO term urate measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: urate measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

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

TITLE:

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

JOURNAL:

Nature genetics Apr 2008, Vol 40, pp. 437-42

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. PUBMED: 18327257
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