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COPD is hereditary

If you smoke and have relatives who suffer from chronic obstructive pulmonary disease (COPD), you have extra good reason to quit smoking. New research from Bergen shows that this lung disease is genetically determined.

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‘People who don’t smoke can also contract COPD. But smoking is by far the most important factor. You can develop COPD through secondary smoking, because of the indoor environment, industrial dust or similar,’ says Amund Gulsvik, professor at the Section for Thoracic Medicine at the Institute of Medicine.

Following prolonged research conducted together with Professor Per Bakke from the same institute, Professor Gulsvik has arrived at the conclusion that two genes in chromosomes 4 and 15 can result in COPD, chronic obstructive pulmonary disease. The research has been carried out in collaboration with researchers from Harvard, Duke and Nevada University. The result has just been published in the journal PLOS Genetics.


Consistent results


COPD is a serious disease with a high mortality rate. It is closely related to smoking, and lung researchers have long endeavoured to find out why some smokers develop COPD while others do not.
Professors Gulsvik and Bakke have examined 2,000 smokers from Bergen over a long period of time. Half of them have COPD and half do not. They have followed the oldest patients since 1985.
‘Those who have the two genes have a greater chance of developing COPD than those who don’t,’ says Amund Gulsvik.

The same result has now also been confirmed among populations in the USA and Europe in corresponding studies. The researchers have also examined the families of those with COPD, and the results show that those with the genes are more disposed to developing COPD.
‘The strongpoint of this study is that the results are consistent for several groups. Similar findings have been made earlier, but it has never been possible to confirm them for several groups before. That meant that it could have been a case of random accumulation,’ says Per Bakke.




The investigation is a genome study for COPD in which the whole genome has been studied. One of the genes found leads to inflammation, which, in turn, leads to scarring of the lungs. The other leads to destruction of the alveoli. 

Finding the genes is just one step on the road to diagnosing and treating patients. It is known that the genes produce protein. The goal now is to find the mechanisms that lead to the destruction of the lungs.
‘Once we identify the mechanisms, we can ether block the genes or the protein,’ says Per Bakke.
Professors Gulsvik and Bakke also point out that COPD is a polygenetic disease, which means that many genes act together.

‘We have started to unravel two genes. Previous studies have shown that there is a connection with genes, but it has not been possible to trace this in other populations. That means that it could have been a random finding,’ says Professor Bakke.

Since COPD is a complete syndrome with sub-groups such as emphysema and chronic bronchitis, the researchers will continue their investigations to find out whether the genes are more strongly related to some of these sub-groups.

Article from På Høyden.