We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.
- Authors
Döring, Angela; Gieger, Christian; Mehta, Divya; Gohlke, Henning; Prokisch, Holger; Coassin, Stefan; Fischer, Guido; Henke, Kathleen; Klopp, Norman; Kronenberg, Florian; Paulweber, Bernhard; Pfeufer, Arne; Rosskopf, Dieter; Völzke, Henry; Illig, Thomas; Meitinger, Thomas; Wichmann, H-Erich; Meisinger, Christa
- Abstract
Serum uric acid concentrations are correlated with gout and clinical entities such as cardiovascular disease and diabetes. In the genome-wide association study KORA (Kooperative Gesundheitsforschung in der Region Augsburg) F3 500K (n = 1,644), the most significant SNPs associated with uric acid concentrations mapped within introns 4 and 6 of SLC2A9, a gene encoding a putative hexose transporter (effects: -0.23 to -0.36 mg/dl per copy of the minor allele). We replicated these findings in three independent samples from Germany (KORA S4 and SHIP (Study of Health in Pomerania)) and Austria (SAPHIR; Salzburg Atherosclerosis Prevention Program in Subjects at High Individual Risk), with P values ranging from 1.2 x 10(-8) to 1.0 x 10(-32). Analysis of whole blood RNA expression profiles from a KORA F3 500K subgroup (n = 117) showed a significant association between the SLC2A9 isoform 2 and urate concentrations. The SLC2A9 genotypes also showed significant association with self-reported gout. The proportion of the variance of serum uric acid concentrations explained by genotypes was about 1.2% in men and 6% in women, and the percentage accounted for by expression levels was 3.5% in men and 15% in women.
- Publication
Nature genetics, 2008, Vol 40, Issue 4, p430
- ISSN
1546-1718
- Publication type
Journal Article
- DOI
10.1038/ng.107