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Lung Function of Preterm Children Parsed by a Polygenic Risk Score for Adult COPD
Gyde Nissen1,2, Svenja Hinsenbrock1, Tanja K Rausch3
1Department of Pediatrics, University Hospital Schleswig-Holstein, University of Lübeck, Lübeck, Germany.
Insights
A polygenic COPD risk score predicts lung function in preterm children, identifying those at high risk for obstructive pulmonary disease. Genetic factors significantly impact lung development in premature infants.
Area of Science:
- Genetics
- Pulmonology
- Pediatrics
Background:
- Chronic obstructive pulmonary disease (COPD) in adults arises from environmental and genetic factors.
- Polygenic COPD risk scores effectively predict lung function in adults.
- The predictive capacity of these scores in preterm children remained unexplored.
Purpose of the Study:
- To investigate if a polygenic COPD risk score, developed in adults, can predict lung function in children born preterm.
- To assess the association between genetic predisposition to COPD and lung function outcomes in this vulnerable pediatric population.
Main Methods:
- Utilized data from 1957 preterm infants (birth weight <1500g) from the German Neonatal Network with 5-year follow-up.
- Calculated a polygenic COPD risk score using over 1.6 million single-nucleotide polymorphisms.
- Analyzed the score's association with forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC), and FEV1/FVC z-scores via linear regression.
Main Results:
- The polygenic COPD risk score strongly correlated with reduced FEV1 and FEV1/FVC in preterm children (P<5x10⁻⁸).
- Children in the highest risk decile exhibited significantly lower mean FEV1 z-scores and increased rates of obstructive bronchitis.
- No significant association was found with FVC alone.
Conclusions:
- A polygenic COPD risk score derived from adults effectively identifies preterm children at elevated risk for obstructive pulmonary disease of prematurity.
- Genetic factors associated with COPD in adults play a crucial role in determining lung function trajectories in premature children.
- This score can aid in identifying high-risk infants for targeted monitoring and intervention.
Abstract:
BACKGROUND: Chronic obstructive pulmonary disease (COPD) in adults is a result of environmental risk factors and genetic factors. Polygenic COPD risk scores are highly predictive for lung function in adults. We hypothesized that a polygenic COPD risk score is also predictive for lung function in children who are born preterm. METHODS: Infants with a birth weight of less than 1500 g (n=17,394) were enrolled in the German Neonatal Network. Among these children, we included those with chip genotyping and 5-year follow-up assessment (n=1957) in this analysis. A polygenic COPD risk score derived in adults with COPD was calculated on the basis of 1,637,882 single-nucleotide polymorphisms associated with forced expiratory volume within 1 second (FEV1) and 1,179,331 single-nucleotide polymorphisms associated with FEV1/FVC (forced vital capacity). This score was related to FEV1, FVC, and FEV1/FVC z scores by linear regression analysis. RESULTS: At a mean age at follow-up of 5.8±0.4 years, the polygenic COPD risk score was strongly associated with FEV1 (−0.05 z score/decile, P=6.5 × 10−9) and FEV1/FVC (−0.07 z score/decile, P=4.4 × 10−11) but not FVC. Children in the 10th decile of the polygenic COPD risk score — that is, those at the highest risk — had a mean FEV1 z score of −1.74 (±1.1), indicating lower lung function by these measures and higher rates of obstructive bronchitis. CONCLUSIONS: The upper deciles of a polygenic COPD risk score derived in adults identified a subgroup of children who were born preterm and who are at high risk for obstructive pulmonary disease of prematurity. This finding supports the notion that COPD-associated genes strongly impact lung function in premature children. (Funded by the German Federal Ministry of Education and Research.)
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