Understanding of Vitamin D receptors Polymorphisms (FokI and ApaI) Role in Kidney Stones Formation

Abstract

Kidney stones are a multifactorial disease results from complex interaction of the environmental, dietary and genetics factors. Vitamin D receptor (VDR) polymorphisms have indirect impact on kidney stone formation via regulation of Ca2+ metabolism. This study investigated the association of the Vit.D3 receptor gene polymorphisms in ApaI (T>G) rs7975232 and FokI (T>C) rs2228570 in the Iraqi kidney stones formers. The study included (96) samples, 64 patients with kidney stones, and the control group consisted of 32 apparently healthy individuals. The samples of this study were collected from The AL-Yarmok hospital in Baghdad/Iraq; the period of this study was from October 2024 to July 2024.  Calculi were chemically analyzed. Biochemical investigations of kidney function tests: Urea, Creatinine, Uric acid, also Vit. D3 and Ca2+serum levels were measured.  The target sequences of VDR gene were amplified by PCR technique and directly sequenced by Sangers method to identify the polymorphic genotypes. The odds ratio (OR) for TG genotype was (OR1.53, 95% CI 0.06 -38.75) which may be increasing the risk factor for kidney stone formation. The odds ratio (OR) for TT genotype was (OR0.26, 95% CI 0.03-2.23), which indicates that TT genotype does not constitute a risk factor for kidney stones. Understanding In this study, it was found that weak of statistically significant association between genotype distribution FokI (C>T)  in exon 2, and ApaI (T>G) in intron 8 of VDR gene and the risk of calcium urolithiasis development in the Iraqi population. The relationship between genetic variations in the vitamin D receptor helps support and develops sustainable health care through several axes, including reducing health costs and promoting sustainable nutrition. Keywords: Stone formation, single-nucleotide polymorphisms (SNPs), VDR gene.