Abstract:Objective To investigate the association of vitamin D receptor (VDR) gene polymorphism with calcium-containing renal calculi and hypocitraturia in the Chinese Dai population. Methods A total of 160 Dai patients with calcium-containing renal calculi who were hospitalized and underwent surgical treatment at The First Affiliated Hospital of Kunming Medical University and Dehong Hospital Affiliated to Kunming Medical University between May 2021 and Nov. 2022 were enrolled, along with 87 Dai healthy controls who underwent physical examinations during the same period. Venous blood was collected to detect 4 single nucleotide polymorphism (SNP) sites of the VDR gene (rs7975232, rs2228570, rs731236, and rs1544410). Twenty-four-hour urine samples were collected to measure the 24-h urinary citrate contents. The distribution of alleles at the VDR gene SNP sites was compared between the Dai patients with calcium-containing renal calculi and healthy controls, and the relationship between these SNPs and 24-h urinary citrate content was analyzed. Results A significant difference was noted in the distribution of the A and C alleles of VDR gene rs7975232 between the 2 groups (P<0.05), whereas no significance was detected in the corresponding genotype distribution (P>0.05). For the remaining 3 SNPs, neither allele nor genotype frequencies showed significant differences (all P>0.05). Among patients with calcium-containing renal calculi, individuals carrying the CC or AC genotype of rs7975232 had significantly higher 24-h urinary citrate than those with the AA genotype ([527±239] mg/24 h or [508±255] mg/24 h vs [346±214] mg/24 h, both P<0.05). Conclusion The rs7975232 polymorphism of the VDR gene is associated with the risk of calcium-containing renal calculi and hypocitraturia in the Chinese Dai population.