Is All COPD Genetic?

I’m going to go against conventional wisdom here. I’m going to put out an educated guess that all COPD is genetic. There’s actually some good science behind my guess here. And some researchers are thinking this too. So, is all COPD genetic? Let’s investigate.

What is 'genetic COPD'?

I don’t want to confuse you. Studies show that 1-2% of people with COPD have a subgroup of COPD called Alpha-1 Antitrypsin Deficiency Syndrome. This is often referred to as genetic COPD. It’s called “genetic COPD” for a reason. It is because, at the present time, it’s the only known subgroup of COPD caused by a specific gene mutation. It’s caused by a mutation on the SERPINA 1 gene.

When you have this, you may develop COPD regardless of whether or not you smoked. You may develop it even if you were never exposed to fumes, dust, or chemicals in the air at your work. So, right now this is the only known genetic form of COPD. But, if our current guess holds true, it may soon have company.

Are there other COPD genes?

The answer here is, “Likely, yes!” Here are two other suspected COPD genes:

• HHIP. This is a gene that makes a protein called Hedgehog Interactive Protein (HIP). This protein plays a role in lung development and healing. A flaw in this gene has been linked with COPD. The exact mechanisms of how it causes COPD are being studied. So, this is something we are keeping an eye on.^1-3
• FAM13a. This is a gene that makes a protein that plays a role in lung function. A flaw on this gene has been linked with pulmonary fibrosis and COPD. It may play a role in the development of fibrosis. A good example here is scarring (fibrosis, thickening) of airways due to exposure to long-term exposure to noxious substances. This gene has also been linked to asthma and lung cancer.^1,4-5

There are probably a lot more COPD genes than noted here. These are just the ones researchers are looking at right now. To put this into perspective, researchers have discovered over 100 asthma genes. Like COPD genes, most of these are immune genes with mutations on them. They are flawed genes. Researchers now think asthmatics have a random assortment of these genes and this may explain why each asthmatic experiences asthma in different ways.

As the research is ongoing, other COPD genes may be discovered. I know some researchers think asthma genes may also contribute to COPD. This may explain why people with asthma are at an elevated risk for developing COPD. And, if there are hundreds of COPD genes, this may explain why COPD, like asthma, is also experienced differently from one person to the next.

How do these genes cause COPD?

So, these genes are being extensively studied. At the present time, researchers are not sure how they might contribute to COPD. Does exposure to noxious chemicals damage these genes, thereby causing mutations on them? If this is true, smoking itself may directly cause COPD. However, if this is true, then why is it that 85% of people who smoke do not develop COPD? It is this question that has researchers thinking that some people are genetically susceptible to developing COPD.

These individuals may already have flaws in genes that might contribute to COPD, such as HHIP and FAM13a. These genes may be inactive when we are born. Something must act as a key to activate them. In the case of COPD, such a key might be chemicals in cigarette smoke. If you smoke, and you have a COPD gene, you have a good chance of getting COPD.

Right now this is all speculation. It’s what researchers are thinking. Further research should hopefully lead to lots of answers.

Still in the early stages of research

Nobody knows what information will result from this research. What’s neat is that researchers are getting this deep. This is all new stuff. Genetic research only started in the 1980s, so we are still in the early stages. The hope is that this research will ultimately lead to better treatment options for those who currently have COPD. It may someday lead to an eventual cure. It may lead to better strategies for preventing people from getting COPD in the future.