Diagnostic Significance of SLC2A9 Gene Polymorphisms and Serum Biomarkers in Gout and Hyperuricemia.

Uric acid, the final product of purine metabolism, is primarily excreted through the kidneys and intestines. Dysregulation in uric acid production or excretion can result in hyperuricemia and gout. Several proteins play important roles in uric acid metabolism. Among them, GLUT9, a key protein for uric acid excretion, has garnered significant attention, particularly for two SNPs (rs3733591 and rs1014290) on its encoding gene SLC2A9. However, their relationship with gout and hyperuricemia in the Han Chinese population has not been researched. This study investigated 498 individuals, including 300 patients with hyperuricemia or gout and 198 healthy controls. Serum uric acid levels were measured, and the genotypes of rs3733591 and rs1014290 were determined using the multicolor melting curve analysis (MMCA) method. These results were subjected to statistical analysis. This detection result highlights the value of MMCA as a rapid and accurate method for genotyping rs3733591 and rs1014290. Statistical analysis revealed that the proportion of the wild-type (C) allele at rs3733591 and the mutant (A) allele at rs1014290 were significantly higher in patients with hyperuricemia and gout compared to healthy controls. Additionally, individuals with the homozygous mutant genotype at rs3733591 had significantly lower uric acid levels compared to those with the wild-type and heterozygous genotypes, whereas homozygous mutants of rs1014290 exhibited higher uric acid levels. Among the various models based on clinical and laboratory data from 433 participants, the logistic regression model based on eight factors - gender, age, eGFR, WBC, HDL, MCHC, rs3733591, and rs1014290 - demonstrated the best diagnostic performance for gout and hyperuricemia, achieving an AUC of 0.8737. In conclusion, this study demonstrated a close association between SLC2A9 gene polymorphisms and gout as well as hyperuricemia in the Han Chinese population. Furthermore, the SLC2A9 gene polymorphisms could serve as key parameters for diagnosing these conditions.