Vitamin D receptor polymorphism and susceptibility to type 1 diabetes in chilean subjects:: A case-parent study
Vitamin D receptor polymorphism and susceptibility to type 1 diabetes in chilean subjects:: A case-parent study
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DOI：
10.1007/s10654-004-1026-z
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发表时间：
2004-01-01
影响因子：
13.6
通讯作者：
Pérez-Bravo, F
中科院分区：
文献类型：
--
作者：
Angel, B;Santos, JL;Pérez-Bravo, F
一些报道已经发现维生素D受体基因（VDR）的多态性与I型糖尿病的发展之间的关系。我们在59例智利病例-父母三人组中研究了三种VDR多态性与I型糖尿病的相关性。对Bsml、Apal和Taq 1多态性进行基因分型。传播/不平衡试验用于通过评估受影响后代的等位基因传播来评估基因-疾病关联。估计Bsm 1、Apa 1和Taq 1位点的B等位基因（传播概率= 52.5%，p = 0.69）、A等位基因（传播概率= 58.4%，p = 0.17）和T等位基因（传播概率= 52.0%，p = 0.77）的传播无显著增加。基于单体型的分析显示非显著的优先传递（全局p = 0.52）。本研究不支持VDR等位基因在智利病例I型糖尿病病因学中有重要贡献的假设。
Several reports have found a relation between polymorphisms of the vitamin D receptor gene (VDR) and the development of type I diabetes. We have examined the association of three VDR polymorphism with type I diabetes in 59 Chilean case-parents trios. Genotyping for Bsml, Apal and Taq1 polymorphism were performed. Transmission/ disequilbrium tests were used to assess gene-disease associations through the evaluation of allelic transmission to affected offspring. Non-significant increased transmissions of B allele (probability of transmission = 52.5%, p = 0.69), A allele (probability of transmission = 58.4%, p = 0.17) and T allele (probability of transmission = 52.0%, p = 0.77) were estimated in Bsm1, Apa1 and Taq1 sites, respectively. Haplotype-based analyses showed non-significant preferential transmissions (global p = 0.52). The present study does not support the hypothesis of a significant contribution of VDR alleles in the etiology of type I diabetes of Chilean cases.