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The insertion/deletion polymorphism in the ACE gene and chronic obstructive pulmonary disease
1Department of Medical Biology and Genetics, Medical Faculty, Dicle University, Diyarbakir, Turkey. seldatsimsek@gmail.com
Genetics and Molecular Research : GMR
|May 11, 2013
Summary
The angiotensin I-converting enzyme (ACE) gene insertion/deletion polymorphism is linked to chronic obstructive pulmonary disease (COPD) risk. This ACE gene variant may influence COPD development, suggesting a potential genetic predisposition.
Area of Science:
- Genetics
- Pulmonology
- Biochemistry
Background:
- Chronic obstructive pulmonary disease (COPD) is a major global health concern.
- The angiotensin I-converting enzyme (ACE) gene is a potential candidate for COPD susceptibility.
- An insertion/deletion (I/D) polymorphism in intron 16 of the ACE gene has been identified.
Purpose of the Study:
- To investigate the association between the ACE gene I/D polymorphism and the risk of developing COPD.
- To analyze ACE genotype and allele frequencies in COPD patients and healthy controls.
Main Methods:
- Case-control study design.
- Recruitment of 66 COPD in-patients and 40 non-smoking controls.
- Genotyping for the ACE I/D polymorphism.
Main Results:
- Significant differences in ACE allele frequencies (D vs. I) were observed between COPD patients and controls (P < 0.05).
- COPD group: 47.0% DD, 30.3% ID, 22.7% II genotypes; D allele frequency 0.62.
- Control group: 32.5% DD, 47.5% ID, 20.0% II genotypes; D allele frequency 0.56.
Conclusions:
- The ACE gene I/D polymorphism shows a significant association with COPD.
- This ACE polymorphism may play a role in the genetic susceptibility to COPD development.
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