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.
CITATION STYLE
Li, S., Sanna, S., Maschio, A., Busonero, F., Usala, G., Mulas, A., … Nagaraja, R. (2007). The GLUT9 gene is associated with serum uric acid levels in sardinia and chianti cohorts. PLoS Genetics, 3(11), 2156–2162. https://doi.org/10.1371/journal.pgen.0030194
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