Association of CTLA4 polymorphism with regulatory T cell frequency

Eur J Immunol. 2005 Jul;35(7):2157-62. doi: 10.1002/eji.200526168.


A common single nucleotide polymorphism in CTLA4 has been linked with susceptibility and outcome in autoimmune and infectious diseases, respectively. Here, we show that this polymorphism is associated with the frequency of CD4(+)CD25(+) regulatory T cells in healthy human volunteers. We further show that, on a per cell basis, such regulatory T cells appear to be functionally indistinguishable across CTLA4 genotypes. These data implicate CTLA4 in regulatory T cell development, and provide a mechanism to account for the link between polymorphisms at this locus and the biological outcome of adaptive immune responses to self and to pathogens.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Antigens, CD
  • Antigens, Differentiation / genetics*
  • CD4-Positive T-Lymphocytes / cytology*
  • CD4-Positive T-Lymphocytes / immunology*
  • CTLA-4 Antigen
  • Genotype
  • Humans
  • Polymorphism, Genetic*
  • T-Lymphocyte Subsets / cytology*
  • T-Lymphocyte Subsets / immunology


  • Antigens, CD
  • Antigens, Differentiation
  • CTLA-4 Antigen
  • CTLA4 protein, human