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
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...
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2020-01-01
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Series: | Journal of Immunology Research |
Online Access: | http://dx.doi.org/10.1155/2020/8838014 |
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author | Monika Chorąży Natalia Wawrusiewicz-Kurylonek Edyta Adamska-Patruno Olga Zajkowska Katarzyna Kapica-Topczewska Renata Posmyk Adam Jacek Krętowski Jan Kochanowicz Alina Kułakowska |
author_facet | Monika Chorąży Natalia Wawrusiewicz-Kurylonek Edyta Adamska-Patruno Olga Zajkowska Katarzyna Kapica-Topczewska Renata Posmyk Adam Jacek Krętowski Jan Kochanowicz Alina Kułakowska |
author_sort | Monika Chorąży |
collection | DOAJ |
description | 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. |
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institution | Kabale University |
issn | 2314-8861 2314-7156 |
language | English |
publishDate | 2020-01-01 |
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series | Journal of Immunology Research |
spelling | doaj-art-4e6600f640c2414192392558730653582025-02-03T01:05:15ZengWileyJournal of Immunology Research2314-88612314-71562020-01-01202010.1155/2020/88380148838014Some 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 PopulationMonika Chorąży0Natalia Wawrusiewicz-Kurylonek1Edyta Adamska-Patruno2Olga Zajkowska3Katarzyna Kapica-Topczewska4Renata Posmyk5Adam Jacek Krętowski6Jan Kochanowicz7Alina Kułakowska8Department of Neurology, Medical University of Bialystok, M. Sklodowskiej-Curie 24A, 15-276 Bialystok, PolandDepartment of Endocrinology, Diabetology and Internal Medicine, Medical University of Bialystok, M. Sklodowskiej-Curie 24A, 15-276 Bialystok, PolandClinical Research Centre, Medical University of Bialystok, M. Sklodowskiej-Curie 24A, 15-276 Bialystok, PolandFaculty of Economic Sciences, University of Warsaw, Dluga 44/50, 00-241 Warsaw, PolandDepartment of Neurology, Medical University of Bialystok, M. Sklodowskiej-Curie 24A, 15-276 Bialystok, PolandDepartment of Clinical Genetics, Medical University of Bialystok, Waszyngtona 13 15-089 Bialystok, PolandDepartment of Endocrinology, Diabetology and Internal Medicine, Medical University of Bialystok, M. Sklodowskiej-Curie 24A, 15-276 Bialystok, PolandDepartment of Neurology, Medical University of Bialystok, M. Sklodowskiej-Curie 24A, 15-276 Bialystok, PolandDepartment of Neurology, Medical University of Bialystok, M. Sklodowskiej-Curie 24A, 15-276 Bialystok, PolandPurpose. 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.http://dx.doi.org/10.1155/2020/8838014 |
spellingShingle | Monika Chorąży Natalia Wawrusiewicz-Kurylonek Edyta Adamska-Patruno Olga Zajkowska Katarzyna Kapica-Topczewska Renata Posmyk Adam Jacek Krętowski Jan Kochanowicz Alina Kułakowska 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 Journal of Immunology Research |
title | 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 |
title_full | 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 |
title_fullStr | 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 |
title_full_unstemmed | 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 |
title_short | 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 |
title_sort | 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 |
url | http://dx.doi.org/10.1155/2020/8838014 |
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