CTLA-4 gene exon-1 +49 A/G polymorphism: lack of association with autoimmune disease in patients with common variable immune deficiency

J Clin Immunol. 2007 Jan;27(1):95-100. doi: 10.1007/s10875-006-9049-8. Epub 2006 Dec 28.

Abstract

The presence of the G allele of exon-1 +49 A/G polymorphisms of the cytotoxic T lymphocyte antigen 4 (CTLA-4) gene has been described as a risk factor associated with the development of autoimmune diseases. Since Common Variable Immune Deficiency (CVID) is associated with autoimmune manifestations in approximately 25% of patients, we sought to examine the association of the CTLA-4 single nucleotide polymorphism with autoimmunity and other inflammatory complications. Sixteen of 47 CVID (34%) patients had a history of autoimmunity, and 15 (32%) had known granulomatous disease with or without lymphoid hyperplasia. CTLA-4 genotype frequencies were AA 40% (19), AG 45% (21), and GG 15% (7). Allele frequencies were A 63% and G 37%, similar to control populations. There were no significant associations between CTLA-4 exon-1 +49 A/G polymorphism and autoimmune or lymphoid hyperplasia and granulomatous disease in this mostly Caucasian CVID patient population.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Antigens, CD / genetics*
  • Antigens, Differentiation / genetics*
  • Autoimmune Diseases / genetics*
  • CTLA-4 Antigen
  • Case-Control Studies
  • Child
  • Common Variable Immunodeficiency / genetics*
  • Exons*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide / genetics*

Substances

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