Predictions based on genetic risk indicate poorer lung function in early childhood

Individuals with a high COPD risk (right) have an increased risk of belonging to the 20% with the worst lung function (Figure from Nissen et al.)

Researchers from the German Center for Lung Research (DZL) and the German Neonatal Network (GNN) have found that the risk of poor lung function in preterm infants can be predicted at the time of their birth. Their study results were published in the journal NEJM Evidence.

Children born prematurely often have poor lung function throughout adulthood and are prone to obstructive lung diseases. This is because lung development mainly occurs in the first few years of life. Preterm infants, therefore, have worse starting conditions that they may not always be able to catch up with. It is particularly important to determine whether there are additional risk factors for obstructive lung diseases in preterm infants.

A genetic risk score for COPD provides indications

Researchers from GNN and DZL, led by Prof. Wolfgang Göpel, utilized an innovative approach to answer this question: they employed a risk score that indicates the likelihood of developing chronic obstructive pulmonary disease (COPD). This score is based on a series of individual genetic variants that were previously combined into a polygenic risk score (PRS) in studies on COPD. Since COPD is a disease that only fully manifests itself in later life, these investigations were conducted on adults with COPD. The researchers aimed to determine, if the PRS could predict poor lung function in preterm infants.

High-risk score contributes to poorer lung function

The short answer is: yes, it can. For the study, the researchers first examined preterm infants from the GNN registry at birth. The children returned to the clinic at the age of six to have their lung function tested. The results were compared with the genetic analyses. It was found that those children with the highest PRS at the age of six had below-average lung function values for the FEV1 and FEV1/FVC parameters*.

Premature infants with a high PRS are at a significantly increased risk

“This means that preterm infants with a high PRS are already at an elevated risk of developing a chronic lung disease in the early stages of their lives”, Prof. Klaus Rabe, one of the authors of the study, explains. Knowing this is important to provide them with appropriate clinical care. “Even more important, however, is to exclude other burdensome environmental risks as much as possible – such as cigarette smoke”, Rabe continues. For research, it is particularly interesting to see how the lung health of the children in this study will develop over the course of their lives, as this may lead to early therapeutic approaches.

The researchers from the DZL and GNN in Lübeck, Kiel and Großhansdorf have just published their results in the new journal NEJM Evidence, a spin-off of the prestigious New England Journal of Medicine. In this way, they bridge the gap between several chronic lung diseases such as asthma and COPD as well as their manifestation at different ages. Investigating the early stages of these diseases is a focus of the DZL in the third and fourth funding period.


Source: Nissen G, Hinsenbrock S, Rausch TK, Stichtenoth G, Ricklefs I, Weckmann M, Franke A, Herting E, König IR, Kopp MV, Rabe KF, Göpel W (2023) Lung Function of Preterm Children Parsed by a Polygenic Risk Score for Adult COPD. NEJM Evidence 2: EVIDoa2200279 (ARCN) link to the article


* FEV1 = Forced expiratory volume in the first second of exhalation; FVC = Forced vital capacity.

For detailed information on lung function values, please visit the Lung Information Service website:



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