CTLA-4 gene polymorphisms and systemic lupus erythematosus in a population-based study of whites and African-Americans in the southeastern United States.

Journal Article (Journal Article)

Cytotoxic lymphocyte antigen-4 (CTLA-4) plays an important role in regulating T cell activation, and may help to limit T cell response under conditions of inflammation. Genetic variability in CTLA-4 has been implicated in the development of several autoimmune diseases. Some studies have described associations between CTLA-4 polymorphisms and systemic lupus erythematosus (SLE), but findings have been inconsistent. We examined polymorphisms in the CTLA-4 gene promoter region (-1722T/C, -1661 A/G, -318C/T) and exon I (+49G/A) with respect to SLE in a population-based case-control study in the southeastern US. Genotypes from 230 recently diagnosed cases and 276 controls were examined separately for African-Americans and whites. We observed no overall associations between SLE and the four CTLA-4 polymorphisms examined. Subgroup analyses revealed effect modification by age for the presence of the -1661G allele, yielding a significant positive association with SLE in younger (<35 years) African-Americans (OR = 3.3). CTLA-4 genotypes also interacted with HLA-DR2 and GM allotype to contribute to risk of SLE. These findings suggest allelic variation in this region of CTLA4 is not a major independent risk factor for SLE, but may contribute to risk of disease in younger African-Americans or in the presence of certain immunogenetic markers.

Full Text

Duke Authors

Cited Authors

  • Parks, CG; Hudson, LL; Cooper, GS; Dooley, MA; Treadwell, EL; St Clair, EW; Gilkeson, GS; Pandey, JP

Published Date

  • 2004

Published In

Volume / Issue

  • 13 / 10

Start / End Page

  • 784 - 791

PubMed ID

  • 15540511

International Standard Serial Number (ISSN)

  • 0961-2033

Digital Object Identifier (DOI)

  • 10.1191/0961203304lu1085oa


  • eng

Conference Location

  • England