Kocabaş A, Karagüzel G, Imir N, Yavuzer U, Akçurin S
Department of Pediatrics, Akdeniz University School of Medicine, Antalya, Turkey.
J Pediatr Endocrinol Metab. 2010 Dec;23(12):1289-97. doi: 10.1515/jpem.2010.203.
Vitamin D receptor (VDR) gene is regarded as one of the candidate genes for type 1 diabetes mellitus (T1D) susceptibility and of some genetic factors involved in the development of osteoporosis in this group.
We characterized the VDR gene polymorphism (BsmI, ApaI, TaqI, FokI and Cdx-2 binding site) in a group of Turkish patients with T1D (n=90) and correlated respective VDR genotypes with the bone mass and some parameters of bone turnover.
There were no differences in the genotype frequencies of the BsmI, ApaI, TaqI and Cdx-2 polymorphisms in patients and control subjects. We found a significantly higher prevalence of the F allele/the FF genotype in the patients compared to controls (p=0,0031, odds 1.96 (1,27-3,01)). We observed no difference in markers of bone turnover (Serum levels of osteocalcin, PINP and alkaline phosphatase, urinary levels of calcium/ creatinine and N-telopeptid) among different VDR genotypes. No correlation was found between VDR polymorphisms and DEXA measurements of these patients.
Although the FF genotype was found to be a risk factor in a Turkish population, elucidation of this result is necessary in other larger study groups drawn from the same ethnic population.
维生素D受体（VDR）基因被认为是1型糖尿病（T1D）易感性的候选基因之一，也是该群体中参与骨质疏松症发生发展的一些遗传因素之一。
我们对一组土耳其T1D患者（n = 90）的VDR基因多态性（BsmI、ApaI、TaqI、FokI和Cdx-2结合位点）进行了特征分析，并将各自的VDR基因型与骨量和一些骨转换参数相关联。
患者和对照受试者在BsmI、ApaI、TaqI和Cdx-2多态性的基因型频率上没有差异。我们发现患者中F等位基因/FF基因型的患病率显著高于对照组（p = 0.0031，优势比1.96（1.27 - 3.01））。在不同的VDR基因型之间，我们未观察到骨转换标志物（血清骨钙素、PINP和碱性磷酸酶水平，尿钙/肌酐和N-端肽水平）有差异。未发现VDR多态性与这些患者的双能X线吸收法（DEXA）测量值之间存在相关性。
尽管在土耳其人群中发现FF基因型是一个危险因素，但在来自同一民族的其他更大研究组中阐明这一结果是必要的。
