Association of idiopathic hypocitraturia in the Yunnan bai population with rs2228570 and rs1544410 vitamin D receptor gene polymorphisms

Objective To investigate the association between rs2228570 and rs1544410 vitamin D receptor gene polymorphisms with idiopathic hypocitraturia in the Yunnan bai population and its clinical significance. Methods 160 cases of idiopathic hypocitraturia and 96 controls with normal urinary citrate were selected from the Yunnan bai population, and the association between rs2228570 and rs1544410 vitamin D receptor gene polymorphisms with idiopathic hypocitraturia in the Yunnan bai population was analyzed by Sanger sequence detection. Results The mean urinary citrate content of 160 patients with idiopathic hypocitraturia in the Yunnan bai population was (239.48±39.66) mg/24 h and that of 96 controls was (591.75±128.33) mg/24 h with the differences being statistically significant (P 0.05). There was significant difference in the genotype frequency differency of the VDR gene SNP rs2228570 (P<0.05) between patients and controls, and the genotype TT frequency of patients was higher than that of controls. The urinary citrate content of subjects with genotype TT [(375.91±205.03) mg/24 h], was significantly lower than that in those with genotype CC [(516.67±203.02) mg/24 h] (t=3.708, P<0.05) and genotype CT [(494.55±200.95) mg/24 h] (t=3.824, P<0.05). Conclusion Idiopathic hypocitraturia in the Yunnan bai population has the association with rs2228570 vitamin D receptor gene polymorphisms, and the genotype TT of VDR gene SNP rs2228570 may be the candidate gene of idiopathic hypocitraturia in the Yunnan bai population. Key words: Vitamin D receptor; Single nucleotide polymorphism; Ldiopathic hypocitraturia