Ibayyan Leena, Zaza Rand, Dahbour Said, El-Omar Ammar, Samhouri Bilal, El-Khateeb Mohammad, Ahram Mamoun
Department of Pathology, Microbiology, and Forensic Medicine, The University of Jordan, Amman, Jordan.
J Mol Neurosci. 2014 Apr;52(4):467-72. doi: 10.1007/s12031-013-0151-0. Epub 2013 Oct 30.
Multiple sclerosis is a chronic inflammatory autoimmune disease of the human central nervous system. A number of studies with compelling evidence have provided correlation between single nucleotide polymorphisms in interleukin-7 receptor alpha and multiple sclerosis (MS) in several populations. One such variation, rs6897932, is located within the coding region and results in the generation of a soluble receptor, whereas another one, rs11567685, is located in the promoter region and affects gene expression. In this study, we investigated the frequencies of these two SNPs and their association to MS in 200 healthy controls and 200 MS patients based on a simple PCR-RFLP strategy not reported previously. The frequencies of the high risk alleles for both SNPs were in a high range among healthy and MS subjects relative to previous studies. In addition, whereas no association was found between the alternative splicing SNP, rs6897932, and MS, a significant link was found between the promoter SNP, rs11567685, and MS. These results are in contrast to other studies and may have important implications as to the molecular contribution of IL-7Rα in multiple sclerosis.
多发性硬化症是一种人类中枢神经系统的慢性炎症性自身免疫疾病。多项有确凿证据的研究表明，白细胞介素-7受体α的单核苷酸多态性与多个群体中的多发性硬化症（MS）之间存在关联。其中一个变异体rs6897932位于编码区内，会导致可溶性受体的产生，而另一个变异体rs11567685位于启动子区域，影响基因表达。在本研究中，我们基于一种此前未报道过的简单PCR-RFLP策略，调查了200名健康对照者和200名MS患者中这两个单核苷酸多态性（SNP）的频率及其与MS的关联。相对于此前的研究，这两个SNP的高风险等位基因在健康受试者和MS受试者中的频率都处于较高范围。此外，虽然未发现可变剪接SNP rs6897932与MS之间存在关联，但发现启动子SNP rs11567685与MS之间存在显著联系。这些结果与其他研究结果相反，可能对IL-7Rα在多发性硬化症中的分子作用具有重要意义。
