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Association of lung function genes with chronic obstructive pulmonary disease
Woo Jin Kim1, Myoung Nam Lim, Yoonki Hong
1Department of Internal Medicine and Environmental Health Center, Kangwon National University Hospital, School of Medicine, Kangwon National University, Chuncheon, South Korea.
Lung
|April 17, 2014
Summary
Genetic variants in FAM13A and PID1 are linked to chronic obstructive pulmonary disease (COPD) susceptibility. ACN9 gene variants interact with smoking intensity, highlighting potential new COPD risk factors.
Area of Science:
- Genetics
- Pulmonary Medicine
- Epidemiology
Background:
- Spirometry is crucial for diagnosing and staging chronic obstructive pulmonary disease (COPD).
- Genome-wide association studies (GWAS) have identified candidate genes related to spirometric measures.
Purpose of the Study:
- To investigate the association of candidate genes from GWAS with COPD susceptibility.
- To examine the interaction between these candidate genes and smoking intensity in COPD.
Main Methods:
- Analysis of 1,000 COPD patients and 1,000 controls.
- Genotyping of 13 single nucleotide polymorphisms (SNPs) identified in Korean population cohorts.
- Genetic association tests adjusted for age, sex, and smoking pack-years, including SNP-by-smoking interaction terms.
Main Results:
- PID1 and FAM13A gene variants were significantly associated with COPD susceptibility.
- Significant interactions were observed between ACN9 and FAM13A SNPs and smoking pack-years.
- ACN9 showed association with COPD in the lowest smoking tertile, and FAM13A risk allele correlated with increased gene expression in lung tissue.
Conclusions:
- The association of FAM13A and PID1 with COPD susceptibility is validated.
- ACN9 demonstrates significant interaction with smoking, identifying it as a potential COPD candidate gene.
- Genetic variants in FAM13A may function as regulatory elements influencing gene expression.
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