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:

• AGPHD1
  • rs8034191, risk allele C in cigarette smokers [PMID 19300482]

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

• CHRNA3
  • rs1051730 [PMID 19300482]]

• FAM13A
  • rs7671167, risk allele T

• IL13
  • rs1800925

• MMP9
  • rs17576, risk allele G in smokers

• SERPINA1
  • rs17580, risk allele T
  • rs28929474, risk allele A

• SFTPB [PMID 18550614]
  • rs3024791
  • rs2118177
  • rs2304566
  • rs1130866
  • rs3024791

• SOD3
  • rs8192287, risk allele T in smokers
  • rs8192288, risk allele T in smokers

• TGFB1
  • rs1982073 (merged into rs1800470)
  • rs1801270
  • rs2241712, risk allele A in smokers [PMID 15175276]
  • rs1800469, risk allele C

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