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Chronic obstructive pulmonary disease

From SNPedia
(Redirected from COPD)

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:

  • AQP5
    • rs3736309; the less common G allele appears to reduce risk of COPD

Smokers who carry risk variants of the rs17580 or rs28929474 SNPs in the SERPINA1 gene may be especially susceptible to COPD.