Abstract
Purpose Multiple sclerosis (MS) is an autoimmune disease, and genetic factors play an important role in its pathogenesis and progression. The aim of our study was to evaluate the frequencies of alleles and genetic variants of the T-cell homeostasis-related genes, in subjects with MS, as well as to investigate the association with MS clinical manifestations and disability. Methods 94 subjects with MS and 160 healthy individuals have been genotyped for seven common single-nucleotide variants in IL-2RA, CTLA4, CD40, and PADI4 genes. The ages of onset, duration of the disease, and clinical condition of the MS subjects were analysed. We used the Chi2 test confirmed with Fisher's exact test for statistical analysis. Results The frequency of allele T and CT/TT genotypes (rs7093069) in the IL2RA gene, as well as the T allele and CT/TT genotypes in rs12722598, were significantly higher in the control group. The significant differences between studied groups we also found for the G allele and GG/GA genotypes of rs3087243 in CTLA4 gene, which were more common among the control group. The heterozygous genotype TC (rs1883832) of CD40 gene was more common in the control subjects, and the frequency of the alleles and genotypes in the rs1748033 of the PADI4 gene did not differ between the studied groups. Between the studied genotypes, we did not observe any significant differences in the age of onset and duration of disease, including sex stratification. Conclusion Our results highlight the protective role of some of the T-cell homeostasis-related genetic variants in MS development, but not in its clinical manifestation.
Highlights
The immunological tolerance balance disturbances, including the presence of specific autoantibodies and the loss of function of some organs, negatively affects the health of patients with autoimmune diseases (ADs) [1]
HLA alleles of class II DRB1∗1501-DQB1∗0201 are associated with an increased risk of multiple sclerosis (MS) development, whereas HLA-DRB1∗0301-DQB1∗0201 is associated with type-1 diabetes mellitus (T1DM) [8, 9]
The studies investigating associations of genes that we have mentioned above with the risk of MS, considering possible differences between populations, as well as an influence of other environmental factors that may affect and interact with a genetic background of autoimmune diseases, are of high importance. Because these genes are related to T-cell homeostasis, and MS has been described as a T-cell-mediated demyelinating inflammatory autoimmune disorder [26], we hypothesise that some of the single-nucleotide variants (SNVs) in or near them may be related to MS development, as well as its clinical manifestations in the Polish population
Summary
The immunological tolerance balance disturbances, including the presence of specific autoantibodies and the loss of function of some organs, negatively affects the health of patients with autoimmune diseases (ADs) [1]. The studies investigating associations of genes that we have mentioned above with the risk of MS, considering possible differences between populations, as well as an influence of other environmental factors that may affect and interact with a genetic background of autoimmune diseases, are of high importance Because these genes are related to T-cell homeostasis, and MS has been described as a T-cell-mediated demyelinating inflammatory autoimmune disorder [26], we hypothesise that some of the SNVs in or near them may be related to MS development, as well as its clinical manifestations in the Polish population. Considering the above, the aim of our study was to analyse the frequencies of selected SNVs in the Polish population with MS, and their correlations with some of the clinical parameters of the disease
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