title: Lack of association between an exon 1 CTLA-4 gene polymorphism A(49)G and multiple sclerosis in a Polish population of the Lower Silesia region.
abstract: Multiple sclerosis (MS) a chronic inflammatory demyelinating disease of the central nervous system is believed to have a T cell-mediated autoimmune etiology. The cytotoxic T lymphocyte antigen 4 (CTLA-4) gene is a strong candidate for the involvement in autoimmune diseases because CTLA-4 plays an important role in the downregulation of the early and late stages of T cell activation and the maintenance of peripheral T cell tolerance. To examine the genetic association of the CTLA-4 gene locus with MS, we analyzed an exon 1 CTLA-4 gene polymorphism A(49)G in 102 unrelated Polish MS patients in the Lower Silesia region and 101 age- and sex-matched healthy subjects. The distribution of CTLA-4 exon 1 A(49)G genotype, phenotype and allele frequencies did not differ between patients with MS and healthy subjects.
authors.affiliation: Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wrocław, Poland. bocko@immuno.iitd.pan.wroc.pl
authors.forename: Dorota
authors.initials: D
authors.lastname: Boćko
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Bilińska
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Dobosz
authors.forename: Magdalena
authors.initials: M
authors.lastname: Zołedziewska
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Suwalska
authors.forename: Anna
authors.initials: A
authors.lastname: Tutak
authors.forename: Ewa
authors.initials: E
authors.lastname: Gruszka
authors.forename: Irena
authors.initials: I
authors.lastname: Frydecka
mesh_terms: D000328:Adult; D000483:Alleles; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D060908:CTLA-4 Antigen; D016022:Case-Control Studies; D005091:Exons; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D010641:Phenotype; D011044:Poland; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human