Immunoregulatory cytokine polymorphisms in Italian patients affected by paroxysmal nocturnal haemoglobinuria and aplastic anaemia

Eur J Immunogenet. 2004 Dec;31(6):267-9. doi: 10.1111/j.1365-2370.2004.00480.x.

Abstract

We investigated regulatory variants of five cytokine genes [tumour necrosis factor (TNF)-alpha, interferon (IFN)-gamma, transforming growth factor (TGF)-beta, interleukin (IL)-6 and IL-10] in 40 Italian patients affected by paroxysmal nocturnal haemoglobinuria (PNH) and aplastic anaemia (AA). Genotypes associated with high production of TGF-beta and IFN-gamma were more frequent in patients than in controls. Genetic regulation of the immunological pathways involved in the pathogenesis of bone marrow failure is suggested.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Aplastic / genetics
  • Anemia, Aplastic / metabolism*
  • Cytokines / genetics*
  • Cytokines / metabolism
  • Gene Frequency
  • Genotype
  • Hemoglobinuria, Paroxysmal / genetics
  • Hemoglobinuria, Paroxysmal / metabolism*
  • Humans
  • Polymorphism, Genetic*

Substances

  • Cytokines