title: CTLA4 dimorphisms and the multiple sclerosis phenotype.
abstract: Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4), expressed on activated T cells, binds to B7 molecules on antigen-presenting cells. Signaling via CTLA-4 results in downregulation of ongoing T-cell clonal expansion. A single-nucleotide polymorphism (SNP) in exon 1 of CTLA4 is associated with susceptibility to several autoimmune diseases, including multiple sclerosis (MS). In this two-stage study, we investigated whether haplotypes composed of exon 1-SNP alleles and alleles of a promoter-region SNP influence age at onset, disease severity and disease course in MS. In stage 1, deviations in CTLA4 haplotype frequencies were observed in patients subgrouped by course; in stage 2, none of these original associations were confirmed.
authors.affiliation: Department of Neurology, Karolinska Institutet at Huddinge University Hospital, S-141 86, Stockholm, Sweden. Thomas.Masterman@neurotec.ki.se
authors.forename: Thomas
authors.initials: T
authors.lastname: Masterman
authors.forename: Arturs
authors.initials: A
authors.lastname: Ligers
authors.forename: Zhiping
authors.initials: Z
authors.lastname: Zhang
authors.forename: Dennis
authors.initials: D
authors.lastname: Hellgren
authors.forename: Hugh
authors.initials: H
authors.lastname: Salter
authors.forename: Maria
authors.initials: M
authors.lastname: Anvret
authors.forename: Jan
authors.initials: J
authors.lastname: Hillert
mesh_terms: D000069594:Abatacept; D017668:Age of Onset; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D060908:CTLA-4 Antigen; D018450:Disease Progression; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D018796:Immunoconjugates; D009103:Multiple Sclerosis / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; D018796:Immunoconjugates; D000069594:Abatacept