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Publication date: Mar 2023
Keywords: COPD, genetics, lung function, multi-ancestry
What is already known about this subject:
- Lung function predicts mortality and is a key diagnostic criterion for chronic obstructive pulmonary disease (COPD), a serious lung disease that lacks effective medical treatment. It is evident that genetics play a major role in human diseases; however, there has been a lack of research in the area of genetics and lung function. A better understanding of the biological mechanism of lung function and COPD through the study of the role of genetics could potentially lead to prospects for improving prediction, prevention and diagnosis and treatment of lung disease. Hence the aim of this manuscript was to identify potential genes associated with lung function that could provide new insights into the mechanistic pathways underlying lung function of which, some may be amenable to potential effective medical treatment.
What this study adds
- Lung function measures including forced expired volume in 1 second (FEV1), forced vital capacity (FVC), FEV1/FVC, and peak expiratory flow rate (PEF) from the Raine Study Gen 2 14-year follow up were used in this collaborative effort with the SpiroMeta Consortium.
- Numerous significant genetic loci were identified and were shown to explain a substantial proportion of the variability in the lung function measures investigated. These genetic loci have been documented to be part of biological pathways that could affect lung function. Several of these genetic loci are novel and this highlights the potential to target specific pathways in the development of effective medical treatments for lung disease. A better understanding could potentially inform and lead to the development of therapies for reduced lung function and COPD.
