Genetic association of Ctla-4 to myasthenia gravis with thymoma

J Neuroimmunol. 1998 Aug 1;88(1-2):192-8. doi: 10.1016/s0165-5728(98)00119-2.

Abstract

Cytotoxic T lymphocyte associated antigen-4 (CTLA-4) plays a pivotal role in downregulating both the cellular and the humoral response by suppressing ongoing responses of activated T cells. Our earlier study showed that genetic variations in interleukin-1 genes confer susceptibility to myasthenia gravis, especially in patients having the lowest risk from major histocompatibility complex genes. Here we describe an association of Ctla-4 gene to the disease with thymoma and a higher prevalence of CTLA-4 gene polymorphism allele 104 in patients positive for IL-1beta TaqI allele 2, an IL-1beta 'high secretor' phenotype. There was no association in patients with hyperplasia and normal thymic histology. These results further advocate that MG is a polygenetic disease and suggest that co-stimulators such as CTLA-4 and CD28 might have an important role in the pathogenesis of the disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abatacept
  • Adult
  • Alleles
  • Antigens, CD
  • Antigens, Differentiation / genetics*
  • Autoimmune Diseases / genetics
  • CTLA-4 Antigen
  • Chromosomes, Human, Pair 2
  • Chromosomes, Human, Pair 6
  • Female
  • Gene Frequency
  • Genetic Markers
  • Humans
  • Immunoconjugates*
  • Male
  • Myasthenia Gravis / complications*
  • Myasthenia Gravis / genetics*
  • Polymorphism, Genetic / genetics
  • Reference Values
  • Thymoma / complications*
  • Thymoma / genetics*
  • Thymus Neoplasms / complications*
  • Thymus Neoplasms / genetics*

Substances

  • Antigens, CD
  • Antigens, Differentiation
  • CTLA-4 Antigen
  • CTLA4 protein, human
  • Genetic Markers
  • Immunoconjugates
  • Abatacept