|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
1-2
|
|
pubmed:dateCreated |
2002-12-31
|
|
pubmed:abstractText |
We comprehensively screened CTLA4 for novel genetic variations in patients with MS. We studied genetic variations by association methods in a population-based sample of 122 sporadic patients with MS and 244 age-, gender- and ethnicity-matched controls, and by linkage and family-based association methods in 395 individuals from 59 American multiplex pedigrees with 141 affected individuals. Being homozygous for AT(8) (common) allele of the 3'(514) microsatellite (OR: 1.69; CI: 0.99-2.86) and for the common 5'(318)*C/E1(49)*A/3'(514*AT(8) haplotype (OR: 1.96; CI: 1.13-3.39) was associated with increased susceptibility to MS in Olmsted County. The genotype frequencies of other individual polymorphisms were not significantly different between cases and controls. A pooled analysis of association studies revealed an odds ratio of 1.28 (95% CI: 1.01-1.63; p=0.043) for 5'(-318)*C homozygotes and 1.28 (95% CI: 1.08-1.51; p=0.005) for the 3'(514)*AT(8) allele. We did not detect linkage with MS susceptibility in multiplex families. We did not find a strong association with age at onset, disease course or severity. CTLA-4 is associated with susceptibility to MS.
|
|
pubmed:grant |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jan
|
|
pubmed:issn |
0165-5728
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
134
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
133-41
|
|
pubmed:dateRevised |
2011-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:12507781-Age of Onset,
pubmed-meshheading:12507781-Alternative Splicing,
pubmed-meshheading:12507781-Antigens, CD,
pubmed-meshheading:12507781-Antigens, Differentiation,
pubmed-meshheading:12507781-Boston,
pubmed-meshheading:12507781-CTLA-4 Antigen,
pubmed-meshheading:12507781-DNA Mutational Analysis,
pubmed-meshheading:12507781-Disease Progression,
pubmed-meshheading:12507781-Exons,
pubmed-meshheading:12507781-Female,
pubmed-meshheading:12507781-Genetic Linkage,
pubmed-meshheading:12507781-Genetic Predisposition to Disease,
pubmed-meshheading:12507781-Genetic Testing,
pubmed-meshheading:12507781-Genetic Variation,
pubmed-meshheading:12507781-Genotype,
pubmed-meshheading:12507781-Haplotypes,
pubmed-meshheading:12507781-Humans,
pubmed-meshheading:12507781-Immunoconjugates,
pubmed-meshheading:12507781-Male,
pubmed-meshheading:12507781-Microsatellite Repeats,
pubmed-meshheading:12507781-Minnesota,
pubmed-meshheading:12507781-Multiple Sclerosis,
pubmed-meshheading:12507781-Polymorphism, Genetic
|
|
pubmed:year |
2003
|
|
pubmed:articleTitle |
CTLA4 is associated with susceptibility to multiple sclerosis.
|
|
pubmed:affiliation |
Department of Neurology, Mayo Clinic and Foundation, 200 First Street, SW, Rochester, MN 55905, USA.
|
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|
