The insertion/deletion polymorphism in the ACE gene and chronic obstructive pulmonary disease

Genet Mol Res. 2013 Apr 25;12(2):1392-8. doi: 10.4238/2013.April.25.10.

Abstract

An insertion/deletion (I/D) polymorphism was identified in intron 16 of the gene encoding the human angiotensin I-converting enzyme (ACE), a candidate gene for chronic obstructive pulmonary disease (COPD). We investigated the relationship between this polymorphism in the ACE gene and the risk of developing COPD. Sixty-six COPD in-patients and 40 non-smoking control individuals were recruited for this study. The distribution of ACE genotypes in these individuals was studied. The frequencies of ACE genotypes were found to be 47.0% for DD, 30.3% for ID, and 22.7% for II in the COPD group and 32.5% for DD, 47.5% for ID, and 20.0% for II in the control group. The allele frequencies were found to be 0.62% for the D allele and 0.38% for the I allele in the COPD group and 0.56% for the D allele and 0.44% for the I allele in the control group. A significant difference was found between I and D allele frequencies (P < 0.05) of the study and control groups. Our results suggest that this ACE polymorphism may be associated with the development of COPD.

MeSH terms

  • Aged
  • Alleles
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Mutagenesis, Insertional*
  • Peptidyl-Dipeptidase A / genetics*
  • Polymorphism, Genetic*
  • Pulmonary Disease, Chronic Obstructive / genetics*
  • Sequence Deletion*
  • Smoking

Substances

  • Peptidyl-Dipeptidase A