SLC2A9 influences uric acid concentrations with pronounced sex-specific effects

  title={SLC2A9 influences uric acid concentrations with pronounced sex-specific effects},
  author={Angela D{\"o}ring and Christian Gieger and Divya Mehta and Henning Gohlke and Holger Prokisch and Stefan Coassin and Guido Fischer and Kathleen D Henke and Norman Klopp and Florian Kronenberg and Bernhard Paulweber and Arne Pfeufer and Dieter Rosskopf and Henry V{\"o}lzke and Thomas Illig and Thomas Meitinger and Heinz-Erich Wichmann and Christa Meisinger},
  journal={Nature Genetics},
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… 
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OBJECTIVE Human urate transporter 1 (hURAT1) is a member of the organic anion transporter family (SLC22A12) that mainly regulates tubular urate reabsorption. Loss-of-function mutations result in
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