Related Experiment Video
Updated: Feb 9, 2026

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
Published on: July 19, 2019
No evidence of a significant role for CTLA-4 in multiple sclerosis
Richard H Roxburgh1, Stephen Sawcer, Mel Maranian
1Department of Clinical Neurosciences, Cambridge University, Addenbrooke's Hospital, CB2 2QQ Cambridge, UK.
Abstract:
Variation in the cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) gene plays a significant role in determining susceptibility to autoimmune thyroid disease and type 1 diabetes. Its role in multiple sclerosis is more controversial. In order to explore this logical candidate more thoroughly, we genotyped 771 multiple sclerosis trio families from the United Kingdom for the 3' untranslated region variable number tandem repeat, the CT60 single nucleotide polymorphism (SNP) and five haplotype-tagging SNPs. No individual marker or common haplotype showed evidence of association with disease. These data suggest that any effect of CTLA-4 on multiple sclerosis susceptibility is likely to be very small.
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