Chronic obstructive pulmonary disease
Chronic obstructive pulmonary disease (COPD) is a disease of the lungs, most often caused by tobacco smoking, in which the airways become narrower, leading to shortness of breath. COPD is a major cause of death and disability. Chronic bronchitis and emphysema are both forms of COPD. Wikipedia.
Epidemiologic data indicate that over 95% of patients with COPD are current or former smokers; however, only about 10-20% of smokers develop COPD, based in part on genetic susceptibility. SNPs in various genes known to influence the risk of developing COPD, in smokers or non-smokers include:
- rs8034191, risk allele C in cigarette smokers [PMID 19300482]
- rs17580, risk allele T
- rs28929474, risk allele A
Smokers who carry risk variants of the rs17580 or rs28929474 SNPs in the SERPINA1 gene may be especially susceptible to COPD.