Association between C-589T polymorphisms of interleukin-4 gene promoter and asthma: a meta-analysis

Respir Med. 2008 Jul;102(7):984-92. doi: 10.1016/j.rmed.2008.02.008. Epub 2008 Apr 18.


Background: A number of studies of genetic epidemiology have assessed the association of C-589T (also referred to as C-590T; rs number, 2243250) polymorphisms in the promoter region of interleukin-4 (IL-4) gene with asthma in different populations. However, the results are inconsistent and inconclusive.

Objectives: We performed a meta-analysis of the association between C-589T polymorphisms of IL-4 and asthma with the following objectives: to estimate the magnitude of the gene effect and the possible mode of inheritance.

Methods: A genetic model-free approach was used to perform a meta-analysis. Asthma (atopy status nondefined), nonatopic and atopic asthma subgroups were separately analyzed. Heterogeneity and publication bias were also explored.

Results: Our meta-analysis summarized the evidence regarding the association between C-589T polymorphisms in the promoter region of IL-4 gene and asthma. When all asthma groups were pooled, a significant association of increased asthma risk and T allele was found. In subgroup analysis, our results indicated a significant association and a recessive genetic mode of C-589T polymorphisms of IL-4 with atopic asthma. The CC genotype was about 21 percent less likely to have atopic asthma than the genotype CT and TT. However, C-589T polymorphisms were not significantly associated with nonatopic asthma.

Conclusions: This meta-analysis suggests there may be an important effect of single nucleotide polymorphisms (SNPs) in the promoter region of IL-4 gene on the pathogenesis of atopic asthma. This warrants further investigation in larger studies and meta-analysis.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Asthma / epidemiology
  • Asthma / genetics*
  • Child
  • Child, Preschool
  • Female
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Interleukin-4 / genetics*
  • Interleukin-4 / metabolism
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide / genetics*
  • Promoter Regions, Genetic / genetics*
  • Receptors, Interleukin-4 / metabolism


  • Receptors, Interleukin-4
  • Interleukin-4