Allelic variation in the vitamin D receptor influences susceptibility to IDDM in Indian Asians
Allelic variation in the vitamin D receptor influences susceptibility to IDDM in Indian Asians
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DOI：
10.1007/s001250050776
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发表时间：
1997-08-01
期刊：
影响因子：
8.2
通讯作者：
Hitman, GA
中科院分区：
文献类型：
--
作者：
McDermott, MF;Ramachandran, A;Hitman, GA
维生素D具有重要的免疫调节特性，可在胰岛素依赖型糖尿病(IDDM)动物模型中预防糖尿病的发生。我们研究了维生素D受体基因座作为印度南部家庭IDDM遗传易感性的候选基因。我们发现了一个特定的维生素D受体等位基因与这个社区的IDDM易感性相关的证据。利用限制性内切酶Taqi、Apai和BsmI以及位于12q14(D12S85)附近的一个微卫星，对93个南印度家庭的3个维生素D受体基因多态进行了分型。传递不平衡检验用于评估多态标记和单倍型在IDDM中的优先传递。在这些家系中，含有BsmI酶切位点的维生素D受体等位基因显著过度传递给受影响的后代(p=0.016)。未发现D12S85与IDDM相关。这项研究表明，维生素D受体基因内部或附近的多态可能会改变该民族对IDDM的易感性。
Vitamin D has important immunomodulatory properties and prevents development of diabetes mellitus in an animal model of insulin-dependent diabetes (IDDM). We have studied the vitamin D receptor locus as a candidate for genetic susceptibility to IDDM in Southern Indian families. We found evidence for an association of one particular vitamin D receptor allele with IDDM susceptibility in this community. Ninety-three South Indian families consisting of available parents and an affected offspring were genotyped for three vitamin D receptor polymorphisms using the restriction enzymes TaqI, ApaI and BsmI as well as an adjacent microsatellite located to 12q14 (D12S85). Transmission disequilibrium testing analysis was used to assess preferential transmission of polymorphic markers and haplotypes with IDDM. There was significant excess transmission of vitamin D receptor alleles containing the BsmI restriction site to affected offspring in these families (p = 0.016). No association was found between D12S85 and IDDM. This study suggests that a polymorphism within or close to the vitamin D receptor gene may modify susceptibility to IDDM in this ethnic group.