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Investigation of Genetic Variants in Antioxidant Enzymes (SOD2 rs4880, CAT rs1001179) and Their Association With Clinical Phenotypes of Multiple Sclerosis: A Case-Control Study
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DOI：10.1155/ane/3853574.png)
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Abstract
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BackgroundMultiple sclerosis (MS) is a chronic, autoimmune disease of the central nervous system with both environmental and genetic inputs. Oxidative stress (OS) seems to be implicated in MS pathophysiology via various mechanisms, including promotion of inflammation, demyelination, and neurodegeneration.ObjectiveThe aim of the current study was to investigate the potential association of two common genetic variants in antioxidant enzymes, namely SOD2 rs4880 and CAT rs1001179, with MS susceptibility and distinct MS clinical features.MethodsA case-control study was conducted, including 200 clinically diagnosed patients with MS and 265 healthy controls, with no neurological background, from Greece. DNA was extracted and genotyping of the two variants, SOD2 rs4880 and CAT rs1001179, was performed using the Competitive Allele-Specific PCR (KASP) assay.ResultsNo statistically significant differences were found in genotype or allele frequency distributions between patients with MS and controls for these two investigated variants. However, in subgroup analyses that followed, potential associations were observed between SOD2 rs4880 and CAT rs1001179 and specific clinical features in the MS cohort, including motor and sensory symptoms and the existence of spinal cord lesions.ConclusionWhile no association was found between the studied variants and MS susceptibility in general, the findings suggest a possible involvement of SOD2 rs4880 and CAT rs1001179 variants in shaping MS clinical variability. Further larger scale studies in independent populations are needed in order to understand the exact role of antioxidant enzyme variability in MS.
Keywords:
catalase (CAT)
genetic susceptibility
mitochondrial superoxide dismutase (SOD2)
neurological disorders
oxidative stress
single nucleotide variants (SNVs)
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