What is the Role of Genetics in COPD?

by | Sep 6, 2014 | COPD, Lung Disease

Sparkling blue eyes fringed with long dark eyelashes, cleft chin, dimples and black wavy hair with a widow’s peak. Yes, you definitely inherited the “family” look. That’s the good news but then again quite a number of people in your family have developed chronic obstructive pulmonary disease (COPD). Now, you are wondering about the role of genetics in COPD?

Over the years with increasing frequency, you have noticed the constant cough, wheezing and overall battle to catch your breath. Other symptoms, at times, have been an increase in mucus production and fatigue. Fortunately or not, you look around at family gatherings and realize that you are not alone as Grandpa Joe, Aunt Laurie and Cousin Jason all sound and feel the same. And it’s not just your family who suffers from COPD. According to the American Lung Association(ALA), more than 12 million Americans have been diagnosed with COPDand another 12 million likely have the condition but are unaware of it.

The Role of Genetics in COPD

There are many known factors that cause COPD to occur with number one on the list being smoking. Frequent exposure to second-hand smoke, air pollution or workplace fumes also make someone susceptible for developing COPD. But what about a family history of COPD? What is the role of genetics in COPD?

In the medical community, there was an interesting fact that was noted: not everyone who smokes will develop COPD. Hence the spark that prompted research to delve into the possibility that the role of genetics in COPD might be stronger than had been previously realized. One study uncovered the presence of an alpha-1-antitrypsin deficiency, a genetic disease connected to lung disease and specifically with COPD. This protein defect commonly occurs in people of Northern European descent.

In 2009, a study conducted in Norway uncovered a new genetic connection between COPD and three locations on chromosome 15. Subsequently, the American Journal of Human Genetics published the results of a study that concluded that the gene culprit was IREB2 and could be used as a test to gauge risk for developing COPD.

Nevertheless, despite finding a genetic relationship, there are still quite a number of unknowns. In addition to making the theoretical water murky is the fact there is not just one gene that prompts the development of COPD. Add to the mix that there is no clear-cut answer to what triggers any of the discovered genes to prompt the disease process. Fortunately, there is still ongoing research being conducted with regard to the genetics in COPD in order to possibly develop new preventive and true treatment options.

COPD is a life-threatening illness that can’t be cured, but it can be effectively treated. Early diagnosis and timely treatment are crucial to helping control symptoms of COPD. If you or a loved one have been diagnosed with COPD, then contact us at the Lung Health Institute or call 888-745-6697 today.


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