
COPD has long been linked to causes including smoking and air pollution, and while genetics have been known to play a role, the largest study to date in the field has highlighted just how big that role can be.
Researchers from Karolinska Institutet in Stockholm, Sweden, have shown that genes linked to COPD are largely responsible for reduced lung function, and that reduction can already be seen in young children. Their findings were published in the journal eClinicalMedicine.
“The fact that we have been able to show in a robust and objective way that COPD genes also affect lung function already in childhood is a paradigm shift,” said lead study author Erik Melén, PhD, professor of pediatrics in the Department of Clinical Science and Education at Karolinska Institutet. “I hope it will mean that we cannot only identify people at risk in time but also help wash away the old stigma of COPD, as we now know the disease process can begin early in life.”
Researchers collaborated with 15 European health centers that included nearly 112,000 participants who were followed over time. Within that group, researchers determined 82 genetic variants that had previously been linked to COPD in adults. They also measured lung function in more than 45,000 participants between the ages of four and 50.Erik Melén, PhDStefan Zimmerman, Karolinska Intitutet
The researchers used this data to calculate at polygenic risk score (PRS) for COPD, which could explain more than 6% of the variation in lung function. They wrote that this is the combined effect of many genetic variants that can be linked to reduced lung function.
Since all the study participants were from Europe, the researchers cautioned that the results can’t be applied to other groups and that further research is needed to study the possibility of preventing the onset of COPD in people with an increased genetic vulnerability.