The role of vitamin D receptor gene polymorphisms in Turkish infants with urolithiasis

Abstract

Polymorphisms in the vitamin D receptor (VDR) gene have recently been reported to be associated with urinary calculi in pediatric and adult cases, but no studies have looked at the youngest period of life. The purpose of this study was to investigate the role of VDR gene polymorphisms in infantile urolithiasis in a Turkish population. We compared a study group of 104 infants (55 girls and 49 boys, mean age 6.94 ± 3.81 months) with a control group of 96 infants (51 girls and 45 boys, mean age 7.51 ± 3.23) to evaluate their demographics and metabolic risk factors. PCR-based restriction analysis of the polymorphisms on the VDR gene (BsmI and TaqI) showed statistically significant differences between study and control groups (p ¼ 0.001 and 0.043, respectively). In addition, the prevalence of the BsmI genotype was significantly different between the hypercalciuric and normocalciuric stone formers (p ¼ 0.007). Allelic frequencies were similar between the urolithiasis and control groups (p40.05). The B allele of BsmI and the A allele of ApaI were more prevalent in the hypercalciuric stone formers than in the normocalciuric stone formers (p ¼ 0.018 vs.0.036, respectively). These results suggest that the BsmI and TaqI VDR genotypes could be candidate genes leading to infantile urolithiasis. ARTICLE HISTORY

Association of Vitamin D Receptor Gene Polymorphism With the Risk of Nephrolithiasis

“…As shown in Figure , 17 studies were included in this research . In contrast with the previous research, 13 articles were excluded due to they do not meet the HWE. The primary characteristics of the 17 studies are summarized in Table .…”

“…As shown in Figure 1, 17 studies were included in this research (11,(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31). In contrast with the previous research, 13 articles (10,12,14,(32)(33)(34)(35)(36)(37)(38)(39)(40)(41) were excluded due to they do not meet the HWE. The primary characteristics of the 17 studies are summarized in Table 1.…”

“…Five VDR SNPs have been widely studied: FokI (rs2228570), TaqI (rs731236), BsmI (rs1544410), ApaI (rs7975232), and Tru9I (rs757343). Some research about the impact of VDR gene polymorphism on the nephrolithiasis susceptivity has been conducted . In 2015, a meta‐analysis performed by Zhou et al concluded that VDR FokI f allele, ff genotype, and TaqI TT genotype were associated with the risk of nephrolithiasis in Asians, but the research included only six trials, and the genotype distributions of the control groups in some included trials do not conform to Hardy–Weinberg equilibrium (HWE) , which caused low reliability of analysis result.…”

TaqI, FokI, and ApaI Polymorphisms in the Vitamin D Receptor in Behçet’s Disease in Turkish Population

“…The roles of VDR polymorphisms were also investigated in urolithiasis and nephrolithiasis. Goknar et al demonstrated that the BsmI and TaqI VDR genotypes may be candidate genes causing infantile urolithiasis [ 35 ]. But another study showed that none of the VDR ApaI, BsmI, and TaqI polymorphisms created any significant risk for urolithiasis [ 36 ].…”

Relationship Between the ApaI (rs7975232), BsmI (rs1544410), FokI (rs2228570), and TaqI (rs731236) Variants in the Vitamin D Receptor Gene and Urolithiasis Susceptibility: An Updated Meta-Analysis and Trial Sequential Analysis

“…A total of 31 articles (Jackman et al, 1999;Ruggiero et al, 1999;Chen et al, 2001a,b;Nishijima et al, 2002;Ozkaya et al, 2003;Shaogang et al, 2003;Relan et al, 2004;Rendina et al, 2004;Shao-Qun et al, 2004;Bid et al, 2005a,b;Gunes et al, 2006;Liu et al, 2007;Moyano et al, 2007;Seyhan et al, 2007;Wang et al, 2009Wang et al, , 2012Li Zhengming and Shi, 2010;Mittal et al, 2010;Mossetti et al, 2010;Seo et al, 2010;Aji et al, 2012;Basiri et al, 2012;Ruan et al, 2012;Guha et al, 2015;Aykan et al, 2016;Cakir et al, 2016;Goknar et al, 2016;Subaşi et al, 2017;Huang et al, 2019) reporting the relationship between VDR ApaI, BsmI, FokI, or TaqI gene variants and urolithiasis susceptibility were recruited through the search strategy (Figure 1 and Table 2). The data we needed were extracted fully ( Table 2).…”