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The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.

by: S Li, S Sanna, A Maschio, F Busonero, G Usala, A Mulas, S Lai, M Dei, M Orrù, G Albai, S Bandinelli, D Schlessinger, E Lakatta, A Scuteri, SS Najjar, J Guralnik, S Naitza, L Crisponi, A Cao, G Abecasis, L Ferrucci, M Uda, WM Chen, R Nagaraja
PLoS genetics, Vol. 3, No. 11. (November 2007)


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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.


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