The GLUT9 gene is associated with serum uric acid levels in sardinia and chianti cohorts

Siguang Li, Serena Sanna, Andrea Maschio, Fabio Busonero, Gianluca Usala, Antonella Mulas, Sandra Lai, Mariano Dei, Marco Orrù, Giuseppe Albai, Stefania Bandinelli, David Schlessinger, Edward Lakatta, Angelo Scuteri, Samer S. Najjar, Jack Guralnik, Silvia Naitza, Laura Crisponi, Antonio Cao, Gonçalo AbecasisLuigi Ferrucci, Manuela Uda, Wei Min Chen, Ramaiah Nagaraja

Research output: Contribution to journalArticlepeer-review


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 × 10-16), along with eight others (p = 7.75 × 10-16 to 6.05 × 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.

Original languageEnglish (US)
Pages (from-to)2156-2162
Number of pages7
JournalPLoS genetics
Issue number11
StatePublished - Nov 2007
Externally publishedYes

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Cancer Research


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