CTLA4 is associated with susceptibility to multiple sclerosis

Orhun H Kantarci, David D. Hebrink, Sara J. Achenbach, Elizabeth J. Atkinson, Alicja Waliszewska, Guy Buckle, Cynthia T. McMurray, Mariza De Andrade, David A. Hafler, Brian G Weinshenker

Research output: Contribution to journalArticle

69 Citations (Scopus)

Abstract

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 AT8 (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*AT8 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)*AT8 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.

Original languageEnglish (US)
Pages (from-to)133-141
Number of pages9
JournalJournal of Neuroimmunology
Volume134
Issue number1-2
DOIs
StatePublished - Jan 2003

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Multiple Sclerosis
Alleles
Homozygote
Pedigree
Age of Onset
Microsatellite Repeats
Haplotypes
Odds Ratio
Genotype
Population

Keywords

  • CTLA-4
  • Multiple sclerosis
  • Polymorphism
  • Prognosis
  • Severity
  • Susceptibility

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy
  • Clinical Neurology
  • Neurology

Cite this

CTLA4 is associated with susceptibility to multiple sclerosis. / Kantarci, Orhun H; Hebrink, David D.; Achenbach, Sara J.; Atkinson, Elizabeth J.; Waliszewska, Alicja; Buckle, Guy; McMurray, Cynthia T.; De Andrade, Mariza; Hafler, David A.; Weinshenker, Brian G.

In: Journal of Neuroimmunology, Vol. 134, No. 1-2, 01.2003, p. 133-141.

Research output: Contribution to journalArticle

Kantarci, OH, Hebrink, DD, Achenbach, SJ, Atkinson, EJ, Waliszewska, A, Buckle, G, McMurray, CT, De Andrade, M, Hafler, DA & Weinshenker, BG 2003, 'CTLA4 is associated with susceptibility to multiple sclerosis', Journal of Neuroimmunology, vol. 134, no. 1-2, pp. 133-141. https://doi.org/10.1016/S0165-5728(02)00395-8
Kantarci OH, Hebrink DD, Achenbach SJ, Atkinson EJ, Waliszewska A, Buckle G et al. CTLA4 is associated with susceptibility to multiple sclerosis. Journal of Neuroimmunology. 2003 Jan;134(1-2):133-141. https://doi.org/10.1016/S0165-5728(02)00395-8
Kantarci, Orhun H ; Hebrink, David D. ; Achenbach, Sara J. ; Atkinson, Elizabeth J. ; Waliszewska, Alicja ; Buckle, Guy ; McMurray, Cynthia T. ; De Andrade, Mariza ; Hafler, David A. ; Weinshenker, Brian G. / CTLA4 is associated with susceptibility to multiple sclerosis. In: Journal of Neuroimmunology. 2003 ; Vol. 134, No. 1-2. pp. 133-141.
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