Over 12.5 million Americans live with a lung condition known as chronic obstructive pulmonary disease (COPD), according to the American Lung Association. While COPD notably occurs in smokers, some people may, in part, develop COPD due to a genetic predisposition.
“Genetic COPD means that … a trait was passed on from your parents that contributes to or causes COPD,” says Jeremy Weinberger, MD, a pulmonary and critical care physician at Tufts Medical Center in Boston.
Many genetic variants that may increase a person’s risk of COPD have been identified, says Dr. Weinberger, but “Alpha-1 antitrypsin deficiency is the most well-known and studied genetic contribution.”
What Is Genetic COPD?
Alpha-1 antitrypsin (alpha-1), a protein made in the liver, is responsible for the protection of your lungs. When your body doesn’t make enough of this protein, inhaling smoke, pollutants, or dust may damage your lungs more easily and increase your risk of developing COPD. In fact, “Alpha-1 antitrypsin deficiency is likely responsible for a significant amount of someone’s COPD if they have it,” Weinberger says.
It’s possible to have an alpha-1 deficiency without knowing it. If you have COPD and a family history of this deficiency, a diagnosis may help protect your health. Roughly 4 in 5 people with alpha-1 deficiency develop COPD, according to Temple Health.
About 1 percent of people with COPD develop this disease because they have alpha-1 deficiency, according to the Mayo Clinic. While smoking is a leading cause of COPD, alpha-1 deficiency and other genetic risk factors can make smokers more susceptible to the disease, per Mayo Clinic.
One study identified 559 different genes that may also play a role in lung function and influence the genetic risk for COPD. More research is needed to confirm which of these genes directly contributes to the development of COPD, however.
