Subaşı Berivan, Gökçe İbrahim, Delil Kenan, Alpay Harika
Department of Pediatrics, Marmara University Medical Faculty, İstanbul, Turkey.
Division of Pediatric Nephrology, Marmara University Medical Faculty, İstanbul, Turkey.
Turk J Pediatr. 2017;59(4):404-409. doi: 10.24953/turkjped.2017.04.006.
Subaşı B, Gökçe İ, Delil K, Alpay H. Vitamin D receptor gene polymorphisms in children with kidney stone disease. Turk J Pediatr 2017; 59: 404-409. Kidney stone disease has a multifactorial etiology involving the interaction of genetic and environmental factors. There is an increased risk of stone formation in the relatives of idiopathic stone patients, which can be explained up to 60% by genetic factors. This study was conducted to explore the association of vitamin D receptor (VDR) gene polymorphisms with the risk of urolithiasis (UL) in Turkish children. We investigated the VDR gene polymorphisms: ApaI, BsmI, TagI, Cdx2, FokI, in 52 children (26 boys, 26 girls) with UL and in 51 healthy children (22 boys, 29 girls) without UL. Apa I, BsmI, TagI, Cdx2, FokI genotypes were analyzed by Apa I, BsmI, TagI, Cdx2, FokI restriction enzyme digestion, respectively. The resulting alleles are designated as ABTCF (ApaI, BsmI, TagI, Cdx2, and FokI restriction site is absent), or abtcf (ApaI, BsmI, TagI, Cdx2, FokI restriction site is present), respectively. Genotype and allele frequencies were calculated, and the association with UL, hypercalciuria and hypocitraturia was investigated. Our data provide no statistically significant evidence for an association between UL and VDR ApaI, BsmI, TagI, Cdx2, and FokI genotype and allele frequencies. Patients with hypocitraturia and hypercalciuria were compared with the control group and no statistically significant difference was detected in terms of VDR gene ApaI, BsmI, TagI, Cdx2, and FokI polymorphisms and allele frequencies. Our data suggest that the VDR ApaI, BsmI, TagI, Cdx2, and FokI polymorphisms do not indicate a significant risk for UL.
苏巴西·B、戈克切·İ、德利尔·K、阿尔佩伊·H。肾结石病患儿的维生素D受体基因多态性。《土耳其儿科学杂志》2017年；59: 404 - 409。肾结石病具有多因素病因，涉及遗传和环境因素的相互作用。特发性结石患者的亲属患结石的风险增加，其中高达60%可由遗传因素解释。本研究旨在探讨维生素D受体（VDR）基因多态性与土耳其儿童尿路结石（UL）风险之间的关联。我们调查了52例患有UL的儿童（26名男孩，26名女孩）和51例无UL的健康儿童（22名男孩，29名女孩）的VDR基因多态性：ApaI、BsmI、TagI、Cdx2、FokI。分别通过Apa I、BsmI、TagI、Cdx2、FokI限制性内切酶消化分析Apa I、BsmI、TagI、Cdx2、FokI基因型。所得等位基因分别指定为ABTCF（ApaI、BsmI、TagI、Cdx2和FokI限制性位点缺失）或abtcf（ApaI、BsmI、TagI、Cdx2、FokI限制性位点存在）。计算基因型和等位基因频率，并研究其与UL、高钙尿症和低枸橼酸尿症的关联。我们的数据没有提供统计学上显著的证据表明UL与VDR ApaI、BsmI、TagI、Cdx2和FokI基因型及等位基因频率之间存在关联。将低枸橼酸尿症和高钙尿症患者与对照组进行比较，在VDR基因ApaI、BsmI、TagI、Cdx2和FokI多态性及等位基因频率方面未检测到统计学上的显著差异。我们的数据表明，VDR ApaI、BsmI、TagI、Cdx and FokI多态性并不表明UL有显著风险。
