Abstract
It is thought that genetic variations play a vital role in the Multiple Sclerosis (MS) etiology. However, the role of genetic factors that influence the clinical features of MS remains unclear. We investigated the correlation between 21 single nucleotide polymorphisms within three genes (IL7R, LAG3, and CD40) and MS clinical characteristics in the Jordanian population. Blood samples and clinical phenotypic data were collected from 218 Arab Jordanian MS patients, vitamin D was measured, genomic DNA was extracted, and genotyping of the candidate genes’ polymorphisms were analyzed using the Sequenom MassARRAY® system. The association of these single nucleotide polymorphisms (SNPs) with MS was performed using a Chi-square, Fisher exact test, and one-way ANOVA. We found a significant association between vitamin D deficiency and three SNPs of the IL7R gene, namely rs987107 (P-value = 0.047), rs3194051 (P-value = 0.03), and rs1494571 (P-value = 0.036), in addition to two SNPs of CD40, namely rs1883832 and rs6074022 (P-value = 0.049 for both). rs3194051 of the IL7R gene (P-value = 0.003) and rs1922452 of the LAG3 gene (P-value = 0.028) were strongly associated with comorbidity. The number of relapses before drug onset was found to be correlated with IL7R SNPs rs969128 (P-value = 0.04) and rs1494555 (P-value = 0.027), whereas the expanded disability status scale (EDSS) was associated with rs1494555 polymorphism of IL7R gene (P-value = 0.026). Current findings indicate important correlations between certain SNPs and the risk of various phenotypes of multiple sclerosis in the Jordanian community. Therefore, this will not only contribute to the understanding of MS, but will also assist with the development of personalized treatment procedures.
Highlights
Multiple sclerosis (MS) is a chronic inflammatory autoimmune disorder that is characterized by immune cells infiltrating by self-reactive T cell-mediated damage in the central nervous system (CNS) [1,2,3]
MS is usually a T-cell-mediated disease where activated T cells play a key role in the pathogenesis of this disease [22,23]
The interaction of these genes (IL7R, cluster of differentiation 40 (CD40) and lymphocytes activation gene 3 (LAG3)) with major histocompatibility complex (MHC) class molecules is associated with MS and other autoimmune diseases [13,24]
Summary
Multiple sclerosis (MS) is a chronic inflammatory autoimmune disorder that is characterized by immune cells infiltrating by self-reactive T cell-mediated damage in the central nervous system (CNS) [1,2,3]. Severity and diversity of clinical symptoms of MS largely depend on the frequency and distribution of lesions in the brain and spinal cord. It has a wide range of symptoms including mental, physical, and psychological problems according to the recent Atlas of MS (2013) published by the MS International Federation. The global median prevalence of MS has increased from 30 to 33 cases per 100,000 people from 2008 to 2013 respectively [2,4]. The prevalence rate of MS in Jordan increased to 39 per 100,000 people in the period from 2004 to 2005 [5,6,7,8]
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