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Replication analysis of variants associated with multiple sclerosis risk
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Replication analysis of variants associated with multiple sclerosis risk
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Journal Article
Replication analysis of variants associated with multiple sclerosis risk
2020
Overview
Multiple Sclerosis (MS) is a complex chronic neurodegenerative disorder resulting from an autoimmune reaction against myelin. So far, many genetic variants have been reported to associate with MS risk however their association is inconsistent across different populations. Here we investigated the association of the most consistently reported genetic MS risk variants in the Kuwaiti MS population in a case-control study designs. Of the 94 reported MS risk variants four variants showed MS risk association in Arabs exome analysis (
EVI5
rs11808092 p = 0.0002;
TNFRSF1A
rs1800693 p = 0.00003;
MTHFR
rs1801131 p = 0.038; and
CD58
rs1414273 p = 0.00007). Replication analysis in Kuwaiti MS cases and healthy controls confirmed
EVI5
rs11808092A (OR: 1.6, 95%CI: 1.19–2.16, p = 0.002) and
MTHFR
rs1801131G (OR: 1.79, 95%CI: 1.3–2.36, p = 0.001) as MS risk genetic factors, while
TNFRSF1A
rs1800693C had a marginal MS risk association (OR: 1.36, 95%CI: 1.04–1.78, p = 0.025) in the Kuwaiti population.
CD58
rs1414273 did not sustain risk association (p = 0.37). In conclusion,
EVI5
rs11808092A,
TNFRSF1A
rs1800693C and
MTHFR
rs1801131G are MS risk factors in the Kuwaiti population. Further investigations into their roles in MS pathogenesis and progression are merited.
Publisher
Nature Publishing Group UK,Nature Publishing Group
Subject
/ 692/308
/ 692/499
/ 692/53
/ Adult
/ Alleles
/ Cell Cycle Proteins - genetics
/ Exome
/ Female
/ Genetic Predisposition to Disease
/ Genotype
/ GTPase-Activating Proteins - genetics
/ Humanities and Social Sciences
/ Humans
/ Male
/ Methylenetetrahydrofolate reductase
/ Methylenetetrahydrofolate Reductase (NADPH2) - genetics
/ Multiple Sclerosis - genetics
/ Myelin
/ Polymorphism, Single Nucleotide
/ Receptors, Tumor Necrosis Factor, Type I - genetics
/ Risk
/ Science
