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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Main Authors: Monika Chorąży, Natalia Wawrusiewicz-Kurylonek, Edyta Adamska-Patruno, Olga Zajkowska, Katarzyna Kapica-Topczewska, Renata Posmyk, Adam Jacek Krętowski, Jan Kochanowicz, Alina Kułakowska
Format: Article
Language:English
Published: Wiley 2020-01-01
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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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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