Bermúdez-Morales Víctor Hugo, Fierros Geny, Lopez Roberto Lopez, Martínez-Nava Gaby, Flores-Aldana Mario, Flores-Rivera José, Hernández-Girón Carlos
National Institute of Public Health, Colonia Santa Maria Ahuacatitlan, Cuernavaca, Morelos CP 62100, Mexico.
Nutrition and Health Research Center, National Institute of Public Health, Colonia Santa Maria Ahuacatitlan, Cuernavaca, Morelos CP 62100, Mexico.
J Neuroimmunol. 2017 May 15;306:20-24. doi: 10.1016/j.jneuroim.2017.01.009. Epub 2017 Feb 3.
Multiple sclerosis (MS) is the most prevalent autoimmune inflammatory demyelinating disease of the central nervous system (CNS) in young adults. More than 50 genomic regions have been associated with MS susceptibility. Due the important immune-modulating properties of Vitamin D, Vitamin D receptor (VDR) gene polymorphisms - which interfere with the actions of Vitamin D- could be related to increased risk of MS.
We studied 120 patients fulfilling the McDonald criteria for MS (81 females and 39 males) and 180 healthy unrelated controls, nested in a case-Control study, and were recruited from the National Institute of Neurology and Neurosurgery, Manuel Velasco Suárez in Mexico City. Genotyping of VDR gene polymorphisms BsmI (rs1544410) and TaqI (rs731236) was performed using TaqMan SNP Genotyping Assay which consists of a predesigned mix of unlabeled polymerase chain reaction (PCR) primers and the TaqMan minor groove binding group (MGB) probe (FAM dye-labeled).
There was a statistically significant, positive association between MS and the T/T genotype of BsmI polymorphism (OR=4.15; 95%CI 1.83-9.39), showing also a significant positive trend across genotypes (p<0.01). This association was also present evaluating the recessive inheritance model of the polymorphism (OR=3.91; 95%CI 1.77-8.64). When evaluating the association by alleles, the statistically significant positive association seen by genotypes was confirmed in the T allele carriers, showing an OR of 1.83 (95%CI 1.27-2.65) for MS.
We found a positive association of the genetic VDR polymorphisms TaqI (rs731236) and BsmI (rs1544410), with the risk of MS in a sample of Mexican adults.
多发性硬化症（MS）是年轻成年人中最常见的中枢神经系统（CNS）自身免疫性炎性脱髓鞘疾病。超过50个基因组区域与MS易感性相关。由于维生素D具有重要的免疫调节特性，干扰维生素D作用的维生素D受体（VDR）基因多态性可能与MS风险增加有关。
我们在一项病例对照研究中，对120例符合MS McDonald标准的患者（81名女性和39名男性）和180名健康无关对照进行了研究，这些患者和对照均来自墨西哥城的曼努埃尔·贝拉斯科·苏亚雷斯国家神经病学和神经外科研究所。使用TaqMan SNP基因分型测定法对VDR基因多态性BsmI（rs1544410）和TaqI（rs731236）进行基因分型，该测定法由预先设计的未标记聚合酶链反应（PCR）引物混合物和TaqMan小沟结合基团（MGB）探针（FAM染料标记）组成。
MS与BsmI多态性的T/T基因型之间存在统计学上显著的正相关（OR = 4.15；95%CI 1.83 - 9.39），在各基因型之间也呈现出显著的正趋势（p < 0.01）。在评估该多态性的隐性遗传模式时，这种相关性也存在（OR = 3.91；95%CI 1.77 - 8.64）。在按等位基因评估相关性时，T等位基因携带者中基因型所见的统计学上显著的正相关得到证实，MS的OR为1.83（95%CI 1.27 - 2.
