Lack of association of vitamin D receptor gene polymorphisms with susceptibility to type 1 diabetes mellitus in the Portuguese population
Lack of association of vitamin D receptor gene polymorphisms with susceptibility to type 1 diabetes mellitus in the Portuguese population
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DOI：
10.1016/j.humimm.2008.01.008
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发表时间：
2008-02-01
期刊：
影响因子：
2.7
通讯作者：
Carvatheiro, Manuela
中科院分区：
文献类型：
--
作者：
Lemos, Manuel C.;Fagulha, Ana;Carvatheiro, Manuela
维生素D受体（VDR）基因是易患自身免疫性疾病的候选基因。 VDR 多态性与 1 型糖尿病风险的关联研究在不同种族背景中经常产生相互矛盾的结果。本研究的目的是测试葡萄牙人群中常见 VDR 多态性与 I 型糖尿病遗传易感性之间的关联。我们通过聚合酶链反应和限制性片段长度多态性分析，对 207 名 1 型糖尿病患者和 249 名对照者进行了 FokI T>C (rs10735810)、BsmIA>G (rs1544410)、Apal G>T (rs7975232) 和 Taql C>T (rs731236) 单核苷酸多态性的基因分型。 VDR 基因型、等位基因和单倍型频率的分布在患者和对照之间没有显着差异。这些数据表明，VDR 基因的单核苷酸多态性不太可能对葡萄牙人群的 1 型糖尿病易感性产生显着影响。 (C) 2008 年美国组织相容性和免疫遗传学学会。由爱思唯尔公司出版。保留所有权利。
The vitamin D receptor (VDR) gene is a candidate gene for susceptibility to autoimmune disorders. Association studies of VDR polymorphisms and risk of type 1 diabetes often produced conflicting results in different ethnic backgrounds. The aim of this study was to test for association between common VDR polymorphisms and the genetic susceptibility to type I diabetes in the Portuguese population. We genotyped 207 patients with type 1 diabetes and 249 controls for the FokI T>C (rs10735810), BsmI A>G (rs1544410), Apal G>T (rs7975232), and Taql C>T (rs731236) single nucleotide polymorphisms by polymerase chain reaction and restriction fragment Length polymorphism analysis. The distribution of VDR genotype, allele, and haplotype frequencies did not differ significantly between patients and controls. These data suggest that the single nucleotide polymorphisms of the VDR gene are unlikely to contribute significantly to type 1 diabetes susceptibility in the Portuguese population. (C) 2008 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.