Association Of Single Nucleotide Genetic Polymorphisms Of Vitamin D Receptor And Calcium-sensitive Receptor With Calcium-containing Kidney Stones In Chinese Dai Populations

Objective(s):To explore the relationship between VDR single nucleotide polymorphisms(rs7975232,rs2228570,rs731236,rs1544410)and Ca SR gene single nucleotide polymorphisms(rs7652589,rs1801725,rs1042636)in Chinese Dai population with calcium-containing kidney stones.Methods: 160 patients with calcium-containing renal calculi of Dai nationality in Dehong Prefecture of Yunnan Province and The First Affiliated Hospital of Kunming Medical University from May 2021 to November 2022 were selected as the experimental group and 137 healthy Dai people in Dehong Prefecture of Yunnan Province and The First Affiliated Hospital of Kunming Medical University as the control group.Blood samples were sequenced by Sanger,rs7975232,rs2228570,rs731236 and rs1544410 at four SNP sites of VDR gene and rs7652589,rs1801725 and rs1042636 at three SNP sites of Ca SR gene were determined.The sequencing data were analyzed by Sequencing Analysis 5.2.The peak map data were analyzed.In the stone group,24-hour urine was collected and 24-hour urinary calcium and 24-hour urinary citrate were measured.The standard of low citrate urine adopted in this study was less than 320mg/24h(1.67mmol/24h)in adults.The definition of hypercalciuria used in this study was as follows: 24-hour urinary calcium excretion in males >300mg/d(> 7.45mmol/d),females > 250mg/d(> 6.24mmol/d).The data were collected for comparative analysis of gene correlation.Results: The distribution of rs7975232 allele on VDR gene was significantly different between the two experimental groups,and the distribution of CC and CA+AA genotypes of rs7975232 site on VDR gene between the two groups was statistically significant(p < 0.05).There was significant difference between CC genotype of VDR rs7975232 locus and hypocitrinuria of AA genotype in patients with calcium nephrolithiasis.There was significant difference between homozygous AA genotype of rs7652589 locus of 0.05.Ca SR and AA+GG gene in the incidence of calcium nephrolithiasis.The 24-hour urinary calcium value of patients with GG genotype at rs1042636 locus of Ca SR was significantly higher than that of patients with AA and AG genotypes.There was significant difference in 24-hour urinary calcium between patients with rs7652589 locus GG genotype and those with AA and AG genotype of Ca SR.Conclusion(s): The rs7975232 single nucleotide polymorphism of VDR gene locus is associated with calcium-containing renal calculi and hypocitrate urine in Dai nationality of China.The rs7652589 polymorphism of Ca SR gene is associated with the occurrence of calcium-containing nephrolithiasis and hypercalciuria in Chinese Dai population,and the GG type gene at rs1042636 locus is associated with hypercalciuria in Dai nationality.The TT genotype of Ca SR gene SNP locus rs1801725 is overexpressed or not expressed in Yunnan Dai population.The single nucleotide polymorphism of the VDR and Ca SR genes in the Dai ethnic group of China is a genetic susceptibility factor for the occurrence of calcium containing kidney stones.