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Machin, M., Amaral, A., Wielscher, M., Rezwan, F., Imboden, M., Jarvelin, M., Adcock, I., Probst-Hensch, N., Holloway, J., Jarvis, D. (2017) Systematic review of lung function and COPD with peripheral blood DNA methylation in population based studies. BMC Pulmonary Medicine, 17 (54). doi:10.1186/s12890-017-0397-3

Systematic review of lung function and COPD with peripheral blood DNA methylation in population based studies

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Author: Machin, Matthew1; Amaral, André F.2,3; Wielscher, Matthias3,4;
Organizations: 1School of Medicine, Imperial College London
2Population Health and Occupational Disease, NHLI, Imperial College London
3MRC-PHE Centre for Environment and Health, Imperial College London
4Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London
5Human Development and Health, Faculty of Medicine, University of Southampton
6Swiss Tropical and Public Health Institute
7University of Basel
8Airways Disease Section, NHLI, Imperial College London
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.6 MB)
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Language: English
Published: Springer Nature, 2017
Publish Date: 2019-01-29


Background: Epigenetic variations in peripheral blood have potential as biomarkers for disease. This systematic review assesses the association of lung function and chronic obstructive pulmonary disease (COPD) with DNA methylation profiles in peripheral blood from population-based studies.

Methods: Online databases Medline, Embase, and Web of Science were searched. Google Scholar was searched to identify grey literature. After removing duplicate articles, 1155 articles were independently screened by two investigators. Peer reviewed reports on population-based studies that examined peripheral blood DNA methylation in participants with measured lung function (FEV1, FEV1/FVC ratio) or known COPD status were selected for full-text review. Six articles were suitable for inclusion. Information regarding study characteristics, designs, methodologies and conclusions was extracted. A narrative synthesis was performed based on published results.

Results: Three of the six articles assessed the association of COPD with DNA methylation, and two of these also included associations with lung function. Overall, five reports examined the association of lung function with DNA methylation profiles. Five of the six articles reported ‘significant’ results. However, no consistent CpG sites were identified across studies for COPD status or lung function values.

Conclusions: DNA methylation patterns in peripheral blood from individuals with reduced lung function or COPD may be different to those in people with normal lung function. However, this systematic review did not find any consistent associations of lung function or COPD with differentially methylated CpG sites. Large studies with a longitudinal design to address reverse causality may prove a more fruitful area of research.

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Series: BMC pulmonary medicine
ISSN: 1471-2466
ISSN-E: 1471-2466
ISSN-L: 1471-2466
Volume: 17
Article number: 54
DOI: 10.1186/s12890-017-0397-3
Type of Publication: A2 Review article in a scientific journal
Field of Science: 3121 General medicine, internal medicine and other clinical medicine
Funding: The ALEC study has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 633212.
Dataset Reference: Additional files:
Copyright information: © The Author(s) 2017. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.