Association of IL-4 and IL-10 gene promoter polymorphisms with common variable immunodeficiency

Immunobiology. 2010;215(1):81-7. doi: 10.1016/j.imbio.2009.01.011. Epub 2009 Feb 26.

Abstract

Common variable immunodeficiency (CVID) is a heterogeneous group of disorders, characterized by severe reduction in serum IgG and IgA with normal or low number of B-cells. Interleukin (IL)-4 and IL-10 levels could be altered in CVID patients, while cytokine production could be affected with polymorphisms of gene promoter regions. The allele and genotype frequencies of IL-4 and IL-10 gene promoter polymorphic sites were investigated in 30 CVID patients in comparison with controls. IL-10 GA genotype was the most frequent genotype at position -1082 in CVID patients, whereas IL-10 AA genotype was significantly decreased in the patient group at the same position. For IL-4, TG (-1098) and TC (-33) genotypes were significantly overrepresented in CVID group, while frequencies of IL-4 TT (-1098) and CC (-33) were significantly decreased in the patient group. Frequency of IL-10 ACA and IL4 GCC haplotypes in CVID patients were significantly higher than controls, whilst frequency of IL-10 ACC and IL-4 TCC significantly decreased in the patient group. Considering low frequency of IL-10 ACC low producing haplotype, high production of IL-10 could be explained in CVID patients. High production of IL-4 could also be expected based on haplotypes frequencies of this cytokine gene polymorphisms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Common Variable Immunodeficiency / epidemiology
  • Common Variable Immunodeficiency / genetics*
  • Common Variable Immunodeficiency / immunology*
  • Common Variable Immunodeficiency / physiopathology
  • Disease Progression
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genotype
  • Haplotypes
  • Humans
  • Interleukin-10 / genetics*
  • Interleukin-10 / immunology
  • Interleukin-10 / metabolism
  • Interleukin-4 / genetics*
  • Interleukin-4 / immunology
  • Interleukin-4 / metabolism
  • Iran
  • Male
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic

Substances

  • Interleukin-10
  • Interleukin-4