Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population

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.

Multiple sclerosis susceptibility may be associated with the coding rs20541 (R130Q) IL-13 gene polymorphism in the Polish population

“…The study group comprised 254 subjects: 94 with relapsing remitting MS (RRMS) (47 males and 47 females, mean age 41.15 ± 9.74 years, Table 1 ) and 160 unrelated healthy adults (85 males, 75 females; mean age 37.6 ± 2.16 years) without any family history of autoimmune diseases. The study population has been previously described in detail 26 , 27 , and it was recruited from the same ethnic group and from the same geographical area.…”

Variants of Novel Immunomodulatory Fc Receptor Like 5 Gene Are Associated With Multiple Sclerosis Susceptibility in the Polish Population

“…We genotyped 254 subjects: 94 with MS (47 males and 47 females, mean age 41.15 ± 9.74 years, Table 1 ) and 160 unrelated healthy adults (85 males, 75 females; mean age 37.6 ± 2.16 years) for two SNVs of the FCRL5 gene (rs2012199, rs6679793). Participants from both groups were recruited from the same ethnic group and geographical area, which has been previously described in detail ( 14 – 17 ). In the control group, we enrolled individuals without any family history of autoimmune diseases.…”