Genetic variations in cytotoxic T-lymphocyte antigen-4 and susceptibility to cervical cancer

Int Immunopharmacol. 2014 Jan;18(1):71-6. doi: 10.1016/j.intimp.2013.10.018. Epub 2013 Nov 4.

Abstract

Cytotoxic T-lymphocyte antigen-4 (CTLA-4), a molecule expressed predominantly on activated T cells, plays an important role in the down-regulation of T-cell activation. To evaluate the potential effects of CTLA-4 gene polymorphisms on susceptibility to cervical cancer, we genotyped polymorphisms in CTLA-4 (- 318 T/C, CT60 G/A,+49 G/A, - 658 T/C, and - 1661 G/A) and calculated odds ratios for the genotype and allele distributions between patients and controls. We then examined the functional relevance of the polymorphisms using enzyme-linked immunosorbent assays (ELISAs), in vitro lymphocyte proliferation assay, and cytotoxic assay. The CTLA-4 - 318 CC, CT60 AA, and+49 GG genotype frequencies were lower in patients than in controls (p <0.05). The frequencies of CTLA-4 - 318 T allele and CT60G allele carriers were significantly higher in patients than in controls (p <0.05). Upon stimulation, peripheral blood mononuclear cells (PBMCs) carrying the - 318TT and CT60GG genotypes exhibited significantly lower proliferation, IL-2, and IL-4 levels; fewer cytolytic activities; and higher TGF-β levels compared with PBMCs carrying the - 318 CC/CT or CT60 AA/AG genotypes. We also found that CTLA-4 - 318 T/C and CT60 G/A single nucleotide polymorphisms were associated with the severity of cervical cancer. These results indicate that CTLA-4 - 318 T/C and CT60 G/A can affect cervical cancer susceptibility by altering the immune status of an individual.

Keywords: CTLA-4; Cervical cancer; Gene polymorphism.

MeSH terms

  • Adult
  • CTLA-4 Antigen / genetics*
  • Carcinogenesis
  • Carcinoma / genetics*
  • Cell Proliferation
  • Cells, Cultured
  • Cytokines / metabolism
  • Cytotoxicity, Immunologic
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Leukocytes, Mononuclear / immunology*
  • Lymphocyte Activation
  • Middle Aged
  • Polymorphism, Genetic
  • Uterine Cervical Neoplasms / genetics*

Substances

  • CTLA-4 Antigen
  • Cytokines