Association of Multiple Sclerosis Phenotypes with Single Nucleotide Polymorphisms of <i>IL7R, LAG3</i>, and <i>CD40</i> Genes in a Jordanian Population: A Genotype-Phenotype Study

• Main Authors: Laith AL-Eitan, Malak Al Qudah, Majdi Al Qawasmeh
• Format: Article
• Language: English
• Published: MDPI AG 2020-02-01
• Series: Biomolecules
• Subjects: multiple sclerosis; phenotype; <i>il7r</i>; lag3; cd40; jordan
• Online Access: https://www.mdpi.com/2218-273X/10/3/356

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 (<i>IL7R</i>, <i>LAG3</i>, and <i>CD40</i>) 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&#8217; polymorphisms were analyzed using the Sequenom MassARRAY^&#174; 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 <i>IL7R</i> gene, namely rs987107 (<i>P</i>-value = 0.047), rs3194051 (<i>P</i>-value = 0.03), and rs1494571 (<i>P</i>-value = 0.036), in addition to two SNPs of <i>CD40</i>, namely rs1883832 and rs6074022 (<i>P</i>-value = 0.049 for both). rs3194051 of the <i>IL7R</i> gene (<i>P</i>-value = 0.003) and rs1922452 of the <i>LAG3</i> gene (<i>P</i>-value = 0.028) were strongly associated with comorbidity. The number of relapses before drug onset was found to be correlated with IL7R SNPs rs969128 (<i>P</i>-value = 0.04) and rs1494555 (<i>P</i>-value = 0.027), whereas the expanded disability status scale (EDSS) was associated with rs1494555 polymorphism of <i>IL7R</i> gene (<i>P</i>-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.