Biochemical metabolic levels and vitamin D receptor FokⅠ gene polymorphisms in Uyghur children with urolithiasis

Abstract

Because of lacking studies of urolithiasis in children, we detected the biochemical metabolic levels and FokⅠ polymorphisms in the vitamin D receptor (VDR) in Uyghur children with urolithiasis, and evaluated the associations of biochemical metabolic levels with FokⅠ genotypes. We included 142 Uyghur children (108 males) under age 14 years with a diagnosis of urolithiasis and 238 Uyghur children (154 males) under age 14 years without a history of urolithiasis as controls. Baseline information and data for serum and urine parameters were obtained from medical records. PCR-restriction fragment length polymorphism (PCR-RFLP) was used to analyze the VDR FokⅠ polymorphisms. In univariate analyses adjusting for age and sex, carbon dioxide combining power (CO2CP) (odds ratio [OR] = 1.13, 95% confidence interval [CI]: 1.07–1.19), serum magnesium (Mg) (OR = 1.27, 95% CI: 1.03–1.56) and serum chlorine (Cl) (OR = 0.93, 95% CI: 0.88–0.97) were related to Uyghur children urolithiasis risk. A multiple logistic regression model showed CO2CP (OR = 1.17, 95% CI: 1.09–1.26), levels of uric acid (OR = 1.01, 95% CI: 1.00–1.01) and serum sodium (Na) (OR = 0.90, 95% CI: 0.82–0.99) were associated with pediatric urolithiasis. The risk of urolithiasis was increased with the F versus f allele overall (OR = 1.42; 95% CI: 1.01–2.00) and for males (OR = 1.52, 95% CI: 1.02–2.27). However, metabolic levels did not differ by FokⅠ genotypes. In our population, CO2CP and levels of uric acid and serum Na as well as polymorphism of the F allele of the VDR FokⅠ may provide important clues to evaluate the risk of urolithiasis in Uyghur children.

Vitamin D receptor gene polymorphisms and susceptibility to urolithiasis: a meta-regression and meta-analysis

“…Twenty studies, including 3114 urolithiasis patients and 3174 controls, evaluated the FokI polymorphism. Of which, 14 studies were conducted in Asian countries [ 26 , 28 , 34 , 35 , 37 , 40 – 42 , 44 , 50 , 60 – 63 ] and 6 studies were in European countries [ 31 – 33 , 48 , 64 , 65 ]. Overall, no significant association was detected between FokI SNP and urolithiasis risk under all five genetic models.…”

“…A series of studies investigated the association between these polymorphisms of VDR gene and the risk of urolithiasis, but the findings have been conflicting [ 24 – 50 ]. The inconsistent results were possibly because of clinical heterogeneity, small sample sizes, and low statistical power.…”

“…The inconsistent results were possibly because of clinical heterogeneity, small sample sizes, and low statistical power. In addition, previous meta-analyses [ 51 – 53 ] appeared to be out of date due to the availability of new data [ 45 – 50 ]. Therefore, we performed the most up to date meta-analysis with the aim of obtaining more accurate and updated results.…”

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).…”

“…Variants of VDR have been found to be a significant risk factor for urolithiasis (Rivers et al, 2000;Stamatelou et al, 2003). At present, more and more epidemiologic investigations are centered on the relationship between urolithiasis risk and VDR gene variants, but the conclusions remain controversial (Aji et al, 2012;Cakir et al, 2016;Huang et al, 2019). For the above reasons, this metaanalysis was carried out to investigate whether susceptibility to urolithiasis was correlated to the VDR gene variants on the basis of widely collected investigations.…”