期刊連結：http://www.gouthyperuricemia.com

Objective: Hyperuricemia is a key risk factor for gout. Previous genome-wide association studies have identified several genes associated with urate concentrations and gout. However, single nucleotide polymorphisms (SNPs) discovered together explain only about 5–6% of variance in urate concentrations, suggesting additional loci remain to be identified. Our aim is to further assess the association of 4 new loci polymorphisms (rs11264341, rs6770152, rs2941484 and rs7224610) in the phenotypic expression of hyperuricemia.
Methods: DNA samples were collected from 1341 unrelated participants over 5 years. Hyperuricemia was defined as uric acid level >420.0 μmol/l in males and post-menopausal women, and as >350.0 μmol/l in pre-menopausal women. DNA samples were genotyped using TaqMan probes that specifically targeted the alternate alleles. T-test and χ2-test were used for statistical analysis. The alpha-level was 0.05; Power analysis was carried out using QUANTO1.2.4.
Results: Subjects comprised 946 males and 395 females. The average age was 50 years old, with no significant differences between groups. Mean serum urate concentrations of hyperuricemic individuals was 467.54 μmol/L. The association analysis results showed that rs11264341 and rs7224610 had some effect on hyperuricemia. Both allelic and genotypic association analysis results showed statistical significance.
Conclusion: Our study correlates the associations of 4 new SNPs with the risk of hyperuricemia in Mainland Chinese Han population for the first time. Furthermore, we confirm the association of SNP rs11264341 and SNP rs7224610 with hyperuricemia and serum uric acid levels of people with C-allele in either SNP seemed lower than ones with other alleles.