Allele C of rs6068816 in the CYP24A1 Gene is Associated with Increased Risk of Hyperuricemia in the Chinese Population: A Case-Control Study.

Background: Vitamin D (1,25-(OH)₂D) has been reported to be associated with hyperuricemia in many epidemiologic reports. CYP24A1 is a rate-limiting enzyme involved in vitamin D metabolism. The aim of this study was to investigate the association between the rs6068816 polymorphism in the CYP24A1 gene and hyperuricemia.

Methods: 130 patients with hyperuricemia from the First Affiliated Hospital of Zhengzhou University were included as the case group. 130 subjects without hyperuricemia were selected as the control group to establish a 1:1 matching case-control study. Logistic regression was used to investigate the association between rs6068816 and hyperuricemia. Additionally, multifactor dimensionality reduction analysis was used to further evaluate the interaction of rs6068816 and body mass index.

Results: The results indicated that patients with hyperuricemia had a higher frequency of genotype CT (Odds Ratio (OR): 2.494, 95% Confidence Interval (CI): 1.140-5.454, p = 0.020) and CC (OR: 3.375, 95% CI: 1.500-7.593, p = 0.003) than TT. The mean serum uric acid level for genotype CC was significantly higher than that of genotype TT (p = 0.001). People with genotype CC had a higher risk of developing hyperuricemia than genotype TT (OR: 5.061, 95% CI: 1.582-16.195, p = 0.006). Furthermore, rs6068816 had a significant multiplicative interaction with body mass index. Compared with genotype TT body mass index, CC body mass index displayed a higher risk of hyperuricemia (OR: 11.308, 95% CI: 1.420-90.049, p = 0.022). This interaction was further verified by the multifactor dimensionality reduction model with a cross-validation consistency of 10/10 and testing balanced accuracy of 0.696 (p = 0.044).

Conclusions: Genotype CC of rs6068816 in the CYP24A1 gene is associated with a higher risk of hyperuricemia, especially for overweight people.