J Neuroimmunol 2002 Oct;131(1-2):208-12
Masterman T, Ligers A, Zhang Z, Hellgren D, Salter H, Anvret M, Hillert J.
Department of Neurology, Karolinska Institutet at Huddinge University Hospital, S-141 86, Stockholm, Sweden
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.