RESUMO
ObjectiveSLC2A9 is a novel identified urate transporter that affects serum uric acid levels. The present study is aimed to investigate rs7442295 polymorphism in intron 6 of SLC2A9 in a population of Chinese male gout or hypemricaemia subjects. MethodsA total of 268 gout patients and 288 healthy male volunteers were included. Blood pressure, body mass index(BMI), serum uric acid, glucose, lipid,urea and creatine were detected. DNA was purified from peripheral blood and the rs7442295 polymorphism was evaluated using high resolution melting ( HRM ) analysis and direct sequencing. Data were analyzed with t test or chi-square test. Results A/A and A/G genotypes were unambiguously distinguished with HRM technology. The occurrence of the homozygous type (G/G) was completely absent among the study population.The prevalence of the A/A and A/G genotype was 96.2％ and 3.8％ respectively. However, no significant differences of genotype frequencies were found in gout patients and normal subjects(x2=0.003, P=0.82; x2=0.003, P=1.00). But the serum uric acid levels in individuals with the A/G genotype[(293±100) μmol/L]were significantly lower than those with the A/A genotype[(392±133) μmol/L](t=2.426, P＜0.01 ). The A/G genotype frequency was significantly higher in the low-uric acid group than in the high uric-acid group (x2=6.279, P=0.01 ). Genotyping based on HRM was fully concordant with sequencing. Conclusion The polymorphism rs7442295 in SLC2A9 may be a genetic marker to assess risk of hyperuricemia among Chinese male Hart population. HRM is a simple, fast, reliable and close-tube technology for genotyping.