Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan; Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid 22110, Jordan.
Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan.
Gene. 2020 Oct 20;758:144959. doi: 10.1016/j.gene.2020.144959. Epub 2020 Jul 16.
Multiple sclerosis (MS) is a clinically heterogeneous multifactorial disorder which is one of the most prevalent neurological disorders of females and young people. Both genetic and environmental factors are playing an important role in the pathophysiology of MS. The main objective of this study is to identify the relationship between numbers of genetic variants within different candidate genes (IL7R, LAG3, and CD40) and the risk of developing MS in the Jordanian Arab population. This case-control study consists of 218 MS patients chosen from neurology clinics at different hospitals in Jordan and ethnically matched 227 healthy controls. Genomic DNA was extracted from blood samples. Genotyping of the candidate gene polymorphisms was conducted using the Sequenom MassARRAY system. Statistical analysis was performed to identify the genetic association of the studied SNPs with MS. Twenty-one variants were studied, three of them were found to be associated with MS (rs6897932 (P-value = 0.01) and rs13188960 (P-value = 0.005) within IL7R gene and LAG3 rs2365095, (P-value = 0.03) within LAG3 gene). Moreover, no significant association was found between MS and the genetic polymorphisms of the CD40 gene. After correction for multiple comparisons, only rs13188960 SNP remained significantly with MS. This is the first study of the genetic association with MS in the Jordanian Arab population to provided evidence of the genetic association of IL7R (rs6897932, rs13188960) and LAG3 (rs2365095) gene polymorphisms with MS. These findings may contribute to our understanding of MS and optimize the therapy protocol for individuals.
多发性硬化症(MS)是一种临床表现多样的多因素疾病,是女性和年轻人中最常见的神经疾病之一。遗传和环境因素在 MS 的病理生理学中都起着重要作用。本研究的主要目的是确定不同候选基因(IL7R、LAG3 和 CD40)内遗传变异数量与约旦阿拉伯人群中 MS 发病风险之间的关系。这项病例对照研究包括 218 名从约旦不同医院的神经病诊所选择的 MS 患者和 227 名种族匹配的健康对照者。从血液样本中提取基因组 DNA。候选基因多态性的基因分型使用 Sequenom MassARRAY 系统进行。进行统计分析以确定所研究 SNP 与 MS 的遗传关联。研究了 21 个变体,其中 3 个变体与 MS 相关(IL7R 基因内的 rs6897932(P 值=0.01)和 rs13188960(P 值=0.005)和 LAG3 基因内的 rs2365095(P 值=0.03))。此外,CD40 基因的遗传多态性与 MS 之间没有发现显著关联。在进行多重比较校正后,只有 rs13188960 SNP 与 MS 仍显著相关。这是第一项针对约旦阿拉伯人群与 MS 遗传关联的研究,为 IL7R(rs6897932、rs13188960)和 LAG3(rs2365095)基因多态性与 MS 之间的遗传关联提供了证据。这些发现可能有助于我们理解 MS,并为个体优化治疗方案。