SLC2A9 influences uric acid concentrations with pronounced sex-specific effects

Doring, 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, Volzke, Henry, Illig, Thomas, Meitinger, Thomas, Wichmann, H-Erich and Meisinger, Christa (2008) SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. Nature Genetics, 40 4: 430-436. doi:10.1038/ng.107

Author Doring, 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
Volzke, Henry
Illig, Thomas
Meitinger, Thomas
Wichmann, H-Erich
Meisinger, Christa
Title SLC2A9 influences uric acid concentrations with pronounced sex-specific effects
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2008
Year available 2008
Sub-type Article (original research)
DOI 10.1038/ng.107
Open Access Status
Volume 40
Issue 4
Start page 430
End page 436
Total pages 7
Place of publication New York, NY United States
Publisher Nature Publishing Group
Collection year 2008
Language eng
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 × 10-8 to 1.0 × 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.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Queensland Brain Institute Publications
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Created: Fri, 24 Oct 2014, 17:11:58 EST by Sylvie Pichelin on behalf of Queensland Brain Institute