CTLA4 gene polymorphisms and multiple sclerosis in Northern Ireland

Shirley Heggarty, Vijayaprakash Suppiah, Jonathan Silversides, Catherine O'Doherty, Aidan Droogan, Gavin McDonnell, Stanley Hawkins, Colin Graham, Koen Vandenbroeck

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24 Citations (Scopus)


Four CTLA4 polymorphisms were investigated in a Northern Irish collection of relapsing-remitting (RR) and primary-progressive (PP) multiple sclerosis (MS) patients. The CTLA4 promoter (- 318 C/T), exon 1 (+ 49 A/G) and intergenic CT60 SNPs, as well as a microsatellite found in the 3′ UTR (ATn) were analysed in 246 RRMS, 84 PPMS and 158 healthy controls. The A allele of the exon 1 + 49 A/G SNP (OR = 1.36; 95% CI = 1.11-1.81; P = 0.038), and more so the AA genotype (OR = 1.70; 95% CI = 1.11-2.60; P = 0.015) were associated with RR, but not PPMS. In the PPMS population, overall allele distribution of the ATn microsatellite was significantly different from that in the healthy controls. We did not find any association with the promoter (- 318 C/T) or intergenic CT60 SNPs in either of the disease cohorts. In concordance with several recent studies, we detected a trend toward higher carriage rates of the + 49 G allele in PP vs RR MS patients (66.7% vs 58.9%), though this was not significant. Our data highlight the CTLA4 + 49 A/G and 3′UTR polymorphisms as potential modifiers of disease course in MS.

Original languageEnglish
Pages (from-to)187-191
Number of pages5
JournalJournal of Neuroimmunology
Issue number1-2
Publication statusPublished or Issued - 1 Jul 2007
Externally publishedYes


  • CTLA-4
  • Genetics
  • Multiple sclerosis
  • Polymorphism
  • Primary-progressive
  • Relapsing-remitting

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Neurology
  • Clinical Neurology

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