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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

CTLA4 exon 1 dimorphism is associated with primary progressive multiple sclerosis.

The cytotoxic T-lymphocyte antigen 4 (CTLA4) is an important modifier of T-cell activation with down-regulatory properties upon B7 engagement. We investigated the association of the CTLA4 A/G dimorphism in exon 1 (+49) with disease susceptibility, disease course and severity. No differences in the allelic distribution of the G(49) allele between multiple sclerosis ( MS) patients and the control group was found. However, the G(49) allele occurred in a significant higher percentage of patients with primary progressive MS compared to patients with bout onset of disease. The results suggest that dysregulation of CTLA4-driven down-regulation of T-cell function due a genetic dimorphism in exon 1 may be involved in the pathogenesis of different MS disease subtypes.[1]


  1. CTLA4 exon 1 dimorphism is associated with primary progressive multiple sclerosis. Mäurer, M., Ponath, A., Kruse, N., Rieckmann, P. J. Neuroimmunol. (2002) [Pubmed]
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