Table 1.

SLC2A9 SNPs showing gender-specific effects on serum uric acid concentrations

Six single nucleotide polymorphisms (SNPs) of SLC2A9 have been reported from various genome-wide association studies to cause gender-specific differences in serum uric acid levels. All six mutations were located in noncoding regions of the gene: five polymorphisms were in intronic regions and one polymorphism was located 5′ of the SLC2A9 gene sequence. Mutations in the gene caused a greater additive effect in women than in men. For women with one copy of the minor allele, the effect size ranged from −0.359 to −0.88 mg/dl. For men, the effect size ranged from −0.128 to −0.428 mg/dl. If an individual has two copies of the minor allele, the reduction in serum uric acid levels would generally double. The frequencies of these mutations are relatively common, affecting ∼24–31% of the Caucasian population.