Evidence map›Paper›PMID 32930613›Full record

ArticleEnvironmental health perspectives2020

Machine Learning-Based DNA Methylation Score for Fetal Exposure to Maternal Smoking: Development and Validation in Samples Collected from Adolescents and Adults.

Sebastian Rauschert, Phillip E Melton, Anni Heiskala, Ville Karhunen, Graham Burdge, Jeffrey M Craig, Keith M Godfrey, Karen Lillycrop, Trevor A Mori, Lawrence J Beilin and 5 more

Open access · diamondAbstract read
In one paragraph

Article in Environmental health perspectives, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 2 pooled it
17.3field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 68 citations in OpenAlex.

  1. Pooled it
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  4. DNA methylation as proxy of genetic, prenatal and perinatal psychiatric risk factors.medRxiv : the preprint server for health sciences · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 10 institutions in 3 countries.

Sebastian RauschertTelethon Kids Institute, University of Western Australia, Nedlands, Perth, Western Australia, Australia.
Phillip E MeltonCentre for Genetic Origins of Health and Disease, University of Western Australia, Perth, Australia.
Anni HeiskalaCenter for Life Course Health Research, University of Oulu, Oulu, Finland.
Ville KarhunenDepartment of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, Imperial College London, London, UK.
Graham BurdgeInstitute of Developmental Sciences, University of Southampton, Faculty of Medicine, Southampton, UK.
Jeffrey M CraigCentre for Molecular and Medical Research, School of Medicine, Deakin University, Geelong, Victoria, Australia.
Keith M GodfreyMRC Lifecourse Epidemiology Unit and NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Karen LillycropBiological Sciences, Faculty of Natural and Environmental Sciences, University of Southampton, Southampton, Hampshire, UK.
Trevor A MoriMedical School, Royal Perth Hospital Unit, University of Western Australia, Perth, Western Australia.
Lawrence J BeilinMedical School, Royal Perth Hospital Unit, University of Western Australia, Perth, Western Australia.
Wendy H OddyMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
Craig PennellSchool of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia.
Marjo-Riitta JärvelinCenter for Life Course Health Research, University of Oulu, Oulu, Finland.
Sylvain SebertCenter for Life Course Health Research, University of Oulu, Oulu, Finland.
Rae-Chi HuangTelethon Kids Institute, University of Western Australia, Nedlands, Perth, Western Australia, Australia.
Imperial College London · GBThe Kids Research Institute Australia · AUThe University of Western Australia · AUUniversity of Southampton · GBUniversity of Tasmania · AUDeakin University · AUOulu University Hospital · FIUniversity Hospital Southampton NHS Foundation Trust · GBUniversity of Newcastle Australia · AUUniversity of Oulu · FI

Funding

Biotechnology and Biological Sciences Research CouncilBritish Heart Foundation RG/15/17/31749Medical Research Council MC_UU_12011/4Medical Research Council MR/M013138/1Medical Research Council MR/M013138/2Medical Research Council MR/S019669/1Medical Research Council MR/S03658X/1
6 · The paper itself

Abstract

backgroundFetal exposure to maternal smoking during pregnancy is associated with the development of noncommunicable diseases in the offspring. Maternal smoking may induce such long-term effects through persistent changes in the DNA methylome, which therefore hold the potential to be used as a biomarker of this early life exposure. With declining costs for measuring DNA methylation, we aimed to develop a DNA methylation score that can be used on adolescent DNA methylation data and thereby generate a score for

methodsWe used machine learning methods to create a score reflecting exposure to maternal smoking during pregnancy. This score is based on peripheral blood measurements of DNA methylation (Illumina's Infinium HumanMethylation450K BeadChip). The score was developed and tested in the Raine Study with data from 995 white 17-y-old participants using 10-fold cross-validation. The score was further tested and validated in independent data from the Northern Finland Birth Cohort 1986 (NFBC1986) (16-y-olds) and 1966 (NFBC1966) (31-y-olds). Further, three previously proposed DNA methylation scores were applied for comparison. The final score was developed with 204 CpGs using elastic net regression.

resultsSensitivity and specificity values for the best performing previously developed classifier ("Reese Score") were 88% and 72% for Raine, 87% and 61% for NFBC1986 and 72% and 70% for NFBC1966, respectively; corresponding figures using the elastic net regression approach were 91% and 76% (Raine), 87% and 75% (NFBC1986), and 72% and 78% for NFBC1966.

conclusionWe have developed a DNA methylation score for exposure to maternal smoking during pregnancy, outperforming the three previously developed scores. One possible application of the current score could be for model adjustment purposes or to assess its association with distal health outcomes where part of the effect can be attributed to maternal smoking. Further, it may provide a biomarker for fetal exposure to maternal smoking. https://doi.org/10.1289/EHP6076.

Indexed as

DNA MethylationMachine LearningAdolescentAdultBiomarkersFemaleFinlandHumansMaleMaternal ExposurePregnancyPrenatal Exposure Delayed EffectsSmokingBiomarkers

Identifiers

PMID32930613
PMCPMC7491641
OpenAlexW3084814412

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.