A promotor polymorphism in the Interleukin 11 gene is associated with chronic obstructive pulmonary disease

Electrophoresis. 2004 Mar;25(6):804-8. doi: 10.1002/elps.200305773.


Chronic obstructive pulmonary disease (COPD) is a multifactorial disorder characterized by irreversible airflow obstruction due to chronic inflammation. Hence, the gene encoding the anti-inflammatory cytokine IL 11 is a good candidate for being involved in the genetic predisposition to COPD. In order to evaluate the role of the Interleukin 11 (IL 11) gene in the genetic predisposition for COPD, a dinucleotide microsatellite polymorphism in the promoter region has been genotyped in 153 patients with COPD (including 25 non-smokers) and 463 healthy controls. Frequencies of the IL 11.A2 microsatellite allele and of IL 11.A2 homozygous individuals were significantly decreased among the patients with COPD (p < 0.012 and p < 0.022, respectively) as compared to controls. Both frequencies were even more drastically reduced among the nonsmoking patients. Tight linkage of this microsatellite allele with another polymorphism in the promotor region was established. Altered expression of IL 11 may be involved in the genetic predisposition to COPD.

MeSH terms

  • Aged
  • Alleles
  • Binding Sites
  • Dinucleotide Repeats
  • Female
  • Gene Frequency
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Interleukin-11 / genetics*
  • Interleukin-11 / metabolism
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic / genetics*
  • Pulmonary Disease, Chronic Obstructive / diagnosis
  • Pulmonary Disease, Chronic Obstructive / genetics*
  • Smoking / genetics
  • Transcription Factors / genetics
  • Transcription Factors / metabolism


  • Interleukin-11
  • Transcription Factors