Is COPD Genetic?

Chronic Obstructive Pulmonary Disease (COPD) is a long-term lung condition that causes breathing difficulties, typically caused by long-term exposure to harmful substances like cigarette smoke or air pollution. However, not everyone exposed to these risks develops the disease. This has led researchers and healthcare professionals to explore the genetic elements of COPD.

In this article, we will explore whether COPD can be inherited, the role of specific genes and family history and how environmental and lifestyle factors contribute to the risk. We will also look at the role of genetic testing in identifying people who may be more likely to develop COPD.

Key Takeaways

Here are the five biggest takeaways from this article about COPD and whether it is genetic:

• COPD can be influenced by genetics, including inherited conditions like alpha-1 antitrypsin deficiency.

• Environmental factors such as smoking, air pollution and socioeconomic status have a substantial impact on COPD risk.

• Family history of COPD may raise the chances of developing the disease, particularly if combined with environmental exposure.

• Not everyone with a genetic risk develops COPD, suggesting other factors are involved in triggering the condition.

• Genetic testing may help some individuals understand their risk, although it is not routinely used for COPD diagnosis.

Which factors can contribute to COPD?

Having a genetic predisposition

A genetic predisposition means that certain genes inherited from one or both parents may make someone more likely to develop COPD. Although the most common cause of COPD is long-term exposure to tobacco smoke, not everyone who smokes develops the disease. This suggests that genetics may influence individual vulnerability.

Studies have shown that certain gene variants can affect lung structure and function, as well as the body’s inflammatory response. These inherited differences may mean that some people’s lungs are more likely to become damaged when exposed to smoke, pollution or other irritants.

Genetics is also believed to play a role in how quickly COPD progresses in some people, even if they receive the same treatment or have similar exposure to environmental risk factors. While more research is needed, evidence points to a complex interaction between genetic makeup and external influences in the development of COPD [1].

Your environment

Environmental factors are a major contributor to COPD and can have as much, or more, impact than genetics alone. The most well-known environmental risk factor is smoking, but other factors also play a significant role.

• Air pollution: Long-term exposure to pollutants such as vehicle emissions, industrial fumes and fine particulate matter is known to harm the lungs. People living in urban areas or working in polluted environments may be more susceptible [2].

• Socioeconomic status: Research has found a strong link between socioeconomic deprivation and COPD. People from lower-income backgrounds may have higher exposure to pollution, poorer nutrition and reduced access to healthcare, all of which may increase risk [3].

• Occupational exposure: Certain jobs, especially those involving dust, chemicals or fumes, may increase the risk of developing COPD over time [4].

• Second-hand smoke and early-life exposure: Children exposed to second-hand smoke or who grow up in polluted environments may experience long-term changes in lung development, making them more vulnerable to COPD in adulthood [5].

Alpha-1 antitrypsin deficiency & a family history

One of the most well-known genetic causes of COPD is alpha-1 antitrypsin deficiency (AATD). This condition affects the body’s ability to produce a protein called alpha-1 antitrypsin, which helps protect the lungs from damage. Without enough of this protein, the lungs can become inflamed and begin to deteriorate more quickly.

People with AATD often develop COPD at a younger age, and symptoms can be more severe. It is estimated that AATD is responsible for up to 2% of all COPD cases, although many people with the condition go undiagnosed [6].

Family history is also important. Studies show that individuals with close relatives who have COPD are more likely to develop it themselves, even if they do not share common risk behaviours such as smoking. This could be due to shared genetics, environmental exposure or a combination of both [7].

Children of parents with COPD may be at greater risk, particularly if they are also exposed to cigarette smoke or environmental pollutants. One study highlighted that children of parents with COPD had a significantly higher chance of developing the condition themselves, regardless of lifestyle choices [8].

Can a genetic test help me?

Genetic testing for COPD is not yet part of routine care in the UK, but it may be useful in certain situations. For example, if someone develops COPD at a young age or has never smoked, testing for alpha-1 antitrypsin deficiency might help explain their condition.

A genetic test could also provide useful information for family members. If one person is found to have AATD, their close relatives can be tested too. This could lead to earlier diagnosis and prompt lifestyle changes that may reduce the risk of developing COPD.

While no test can currently predict who will definitely get COPD, genetic screening may help some people understand their risk and make informed decisions. If you have a strong family history of the condition or unexplained breathing problems, you may wish to discuss genetic testing with your GP or a respiratory specialist.

Final Thoughts

Although COPD is most commonly caused by long-term exposure to tobacco smoke and air pollution, genetics can play a significant role. Inherited factors, such as alpha-1 antitrypsin deficiency, can increase the risk of lung damage, especially when combined with environmental hazards. A family history of COPD may also raise a person’s chances of developing the condition, even if they avoid smoking.

However, having a genetic predisposition does not mean someone will definitely develop COPD. It simply means they may need to be more cautious and aware of environmental risks. 

Sources

[1] Genetics of chronic obstructive pulmonary disease: understanding the pathobiology and heterogeneity of a complex disorder - ScienceDirect

[2] Environmental correlates of chronic obstructive pulmonary disease in 96 779 participants from the UK Biobank: a cross-sectional, observational study - UK Biobank

[3] Prediction and stratification of longitudinal risk for chronic obstructive pulmonary disease across smoking behaviors | Nature Communications

[4] Effect of smoking on the development of chronic obstructive pulmonary disease in young individuals: a nationwide cohort study - PMC

[5] Air pollution and risk of chronic obstructed pulmonary disease: The modifying effect of genetic susceptibility and lifestyle - PMC

[6] COPD - Alpha-1 Antitrypsin Deficiency | NHLBI, NIH

[7] Family History Is a Risk Factor for COPD - PMC

[8] Parental COPD as a Risk Factor for the Development of COPD and Disease Severity in Offspring: A Systematic Scoping Review