Systematic review of lung function and COPD with peripheral blood DNA methylation in population based studiesReport as inadecuate

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BMC Pulmonary Medicine

, 17:54

Epidemiology and public health


BackgroundEpigenetic 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.

MethodsOnline 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.

ResultsThree 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.

ConclusionsDNA 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.

Trial registrationPROSPERO 2016: CRD42016037352.

KeywordsCOPD Lung function DNA methylation Epigenetics Peripheral blood AbbreviationsAATAlpha-1 antitrypsin

CGICpG island

COPDChronic obstructive pulmonary disease

CpG5’-cytosine-phosphate-guanine-3’ sequence

DNADeoxyribonucleic acid


EOCOPDBoston Early Onset COPD Study

EWASEpigenome-wide association study

FDRFalse discovery rate

FEV1Forced expiratory volume in one second

FVCForced vital capacity

GOLDGlobal Initiative for Chronic Obstructive Lung Disease

ICGNInternational COPD Genetics Network

LINE-1Long interspersed nuclear element 1

MeSHMedical Subject Headings

MMEFMaximum mid-expiratory flow

MSREMethyl sensitive restriction enzyme


N-ANot available-not applicable

PA-SCOPEPennsylvania Study of Chronic Obstructive Pulmonary Exacerbations

PCRPolymerase chain reaction

PRISMAPreferred Reporting Items for Systematic Reviews and Meta-Analyses

qPCRQuantitative polymerase chain reaction

RNARibonucleic acid

WoSWeb of Science

Electronic supplementary materialThe online version of this article doi:10.1186-s12890-017-0397-3 contains supplementary material, which is available to authorized users.

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Author: Matthew Machin - André F. S. Amaral - Matthias Wielscher - Faisal I. Rezwan - Medea Imboden - Marjo-Riitta Jarvelin - Ia


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