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Döring, A. ; Gieger, C. ; Mehta, D. ; Gohlke, H. ; Prokisch, H. ; Coassin, S.* ; Fischer, G. ; Henke, K.* ; Klopp, N. ; Kronenberg, F.* ; Paulweber, B.* ; Pfeufer, A. ; Rosskopf, D.* ; Völzke, H.* ; Illig, T. ; Meitinger, T. ; Wichmann, H.-E. ; Meisinger, C.

SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.

Nat. Genet. 40, 430-436 (2008)
DOI
Open Access Green as soon as Postprint is submitted to ZB.
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.
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Publication type Article: Journal article
Document type Scientific Article
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Journal Nature Genetics
Quellenangaben Volume: 40, Issue: 4, Pages: 430-436 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place New York, NY
Reviewing status Peer reviewed