No evidence of a significant role for CTLA-4 in multiple sclerosis.
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.
Roxburgh
Richard H
RH
Department of Clinical Neurosciences, Cambridge University, Addenbrooke's Hospital, CB2 2QQ Cambridge, UK.
Sawcer
Stephen
S
Maranian
Mel
M
Seaman
Shaun
S
Hensiek
Anke
A
Yeo
Taiwai
T
Deans
Jackie
J
Compston
Alastair
A
D020413:3' Untranslated Regions / Q000502:physiology; D000328:Adult; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D060908:CTLA-4 Antigen; D016009:Chi-Square Distribution; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D018598:Minisatellite Repeats / Q000235:genetics; D009103:Multiple Sclerosis / Q000453:epidemiology / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*
D020413:3' Untranslated Regions; D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human