Published in
Public Library of Science, PLoS Genetics, 2007(preprint), p. e194, 2005
DOI: 10.1371/journal.pgen.0030194.eor
Public Library of Science, PLoS Genetics, 11(3), p. e194, 2007
DOI: 10.1371/journal.pgen.0030194
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The GLUT9 Gene Is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts
,
Andrea Maschio,
Fabio Busonero,
Gianluca Usala,
Antonella Mulas,
Sandra Lai,
Mariano Dei,
Marco Orrù,
Giuseppe Albai,
Stefania Bandinelli,
David Schlessinger,
Edward Lakatta,
Angelo Scuteri
and other authors.
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Abstract
High serum uric acid levels elevate pro-inflammatory-state gout crystal arthropathy and place individuals at high risk for cardiovascular morbidity and mortality. Genome-wide scans in the genetically isolated Sardinian population identified variants associated with serum uric acid levels as a quantitative trait. They mapped within GLUT9, a Chromosome 4 glucose transporter gene predominantly expressed in liver and kidney. SNP rs6855911 showed the strongest association (p = 1.84 x 10(-16)), along with eight others (p = 7.75 x 10(-16) to 6.05 x 10(-11)). Individuals homozygous for the rare allele of rs6855911 (minor allele frequency = 0.26) had 0.6 mg/dl less uric acid than those homozygous for the common allele; the results were replicated in an unrelated cohort from Tuscany. Our results suggest that polymorphisms in GLUT9 could affect glucose metabolism and uric acid synthesis and/or renal reabsorption, influencing serum uric acid levels over a wide range of values.