---
DOAJ_listed: '1'
OA_place: publisher
OA_type: gold
_id: '19023'
abstract:
- lang: eng
  text: 'Alcohol consumption is an important risk factor for multiple diseases. It
    is typically assessed via self-report, which is open to measurement error through
    recall bias. Instead, molecular data such as blood-based DNA methylation (DNAm)
    could be used to derive a more objective measure of alcohol consumption by incorporating
    information from cytosine-phosphate-guanine (CpG) sites known to be linked to
    the trait. Here, we explore the epigenetic architecture of self-reported weekly
    units of alcohol consumption in the Generation Scotland study. We first create
    a blood-based epigenetic score (EpiScore) of alcohol consumption using elastic
    net penalized linear regression. We explore the effect of pre-filtering for CpG
    features ahead of elastic net, as well as differential patterns by sex and by
    units consumed in the last week relative to an average week. The final EpiScore
    was trained on 16,717 individuals and tested in four external cohorts: the Lothian
    Birth Cohorts (LBC) of 1921 and 1936, the Sister Study, and the Avon Longitudinal
    Study of Parents and Children (total N across studies > 10,000). The maximum Pearson
    correlation between the EpiScore and self-reported alcohol consumption within
    cohort ranged from 0.41 to 0.53. In LBC1936, higher EpiScore levels had significant
    associations with poorer global brain imaging metrics, whereas self-reported alcohol
    consumption did not. Finally, we identified two novel CpG loci via a Bayesian
    penalized regression epigenome-wide association study of alcohol consumption.
    Together, these findings show how DNAm can objectively characterize patterns of
    alcohol consumption that associate with brain health, unlike self-reported estimates.'
acknowledgement: 'Generation Scotland: Generation Scotland received core support from
  the Chief Scientist Office of the Scottish Government Health Directorates (CZD/16/6)
  and the Scottish Funding Council (HR03006). Genotyping and DNA methylation profiling
  of the Generation Scotland samples were carried out by the Genetics Core Laboratory
  at the Edinburgh Clinical Research Facility, Edinburgh, Scotland, and were funded
  by the Medical Research Council UK and the Wellcome Trust (Wellcome Trust Strategic
  Award STratifying Resilience and Depression Longitudinally (STRADL; Reference 104036/Z/14/Z)
  and 220857/Z/20/Z. The DNA methylation data assayed for Generation Scotland were
  partially funded by a 2018 NARSAD Young Investigator Grant from the Brain & Behavior
  Research Foundation (Ref: 27404; awardee: Dr David M Howard) and by a JMAS SIM fellowship
  from the Royal College of Physicians of Edinburgh (Awardee: Dr Heather C Whalley).
  Lothian Birth Cohorts: We thank the LBC1921 and LBC1936 participants and team members
  who contributed to these studies. The LBC1921 was supported by the UK’s Biotechnology
  and Biological Sciences Research Council (BBSRC), The Royal Society, and The Chief
  Scientist Office of the Scottish Government. The LBC1936 is supported by the BBSRC,
  and the Economic and Social Research Council [BB/W008793/1] (which supports S.E.H.),
  Age UK (Disconnected Mind project), the Milton Damerel Trust, the Medical Research
  Council (MR/M01311/1), and the University of Edinburgh. Methylation typing of LBC1936
  was supported by the Centre for Cognitive Ageing and Cognitive Epidemiology (Pilot
  Fund award), Age UK, The Wellcome Trust Institutional Strategic Support Fund, The
  University of Edinburgh, and The University of Queensland. Genotyping was funded
  by the BBSRC (BB/F019394/1). S.R.C. is supported by a Sir Henry Dale Fellowship
  jointly funded by the Wellcome Trust and the Royal Society (Grant Number 221890/Z/20/Z).
  ALSPAC: The UK Medical Research Council and Wellcome (Grant ref: 217065/Z/19/Z)
  and the University of Bristol provide core support for ALSPAC. This publication
  is the work of the authors and Matthew Suderman will serve as guarantors for the
  contents of this paper. A comprehensive list of grants funding is available on the
  ALSPAC website (http://www.bristol.ac.uk/alspac/external/documents/grant-acknowledgements.pdf).
  Funding for ALSPAC DNAm measurements was supported by the Wellcome (102215/2/13/2);
  the University of Bristol; the UK Economic and Social Research Council (ES/N000498/1);
  the UK Medical Research Council (MC_UU_12013/1, MC_UU_12013/2); and the John Templeton
  Foundation (60828). MS and PY work within the MRC Integrative Epidemiology Unit
  at the University of Bristol, which is supported by the Medical Research Council
  (MC_UU_00011/5). Sister Study: This research was supported by the Intramural Research
  Program of the National Institutes of Health (Z01-ES049033, Z01-ES049032, Z01-ES044005).
  A.D.C. was supported by a Medical Research Council PhD Studentship in Precision
  Medicine with funding from the Medical Research Council Doctoral Training Program
  and the University of Edinburgh College of Medicine and Veterinary Medicine. R.F.H
  is supported by an MRC IEU Fellowship. M.R.R. was funded by Swiss National Science
  Foundation Eccellenza Grant PCEGP3-181181 and by core funding from the Institute
  of Science and Technology Austria. E.B. and R.E.M. are supported by Alzheimer’s
  Society major project grant AS-PG-19b-010. This research was funded in whole, or
  in part, by the Wellcome Trust (104036/Z/14/Z, 220857/Z/20/Z, and 221890/Z/20/Z).
  For the purpose of open access, the author has applied a CC BY public copyright
  licence to any Author Accepted Manuscript version arising from this submission.'
article_number: '14'
article_processing_charge: Yes
article_type: original
author:
- first_name: Elena
  full_name: Bernabeu, Elena
  last_name: Bernabeu
- first_name: Aleksandra D.
  full_name: Chybowska, Aleksandra D.
  last_name: Chybowska
- first_name: Jacob K.
  full_name: Kresovich, Jacob K.
  last_name: Kresovich
- first_name: Matthew
  full_name: Suderman, Matthew
  last_name: Suderman
- first_name: Daniel L.
  full_name: Mccartney, Daniel L.
  last_name: Mccartney
- first_name: Robert F.
  full_name: Hillary, Robert F.
  last_name: Hillary
- first_name: Janie
  full_name: Corley, Janie
  last_name: Corley
- first_name: Maria Del C.
  full_name: Valdés-Hernández, Maria Del C.
  last_name: Valdés-Hernández
- first_name: Susana Muñoz
  full_name: Maniega, Susana Muñoz
  last_name: Maniega
- first_name: Mark E.
  full_name: Bastin, Mark E.
  last_name: Bastin
- first_name: Joanna M.
  full_name: Wardlaw, Joanna M.
  last_name: Wardlaw
- first_name: Zongli
  full_name: Xu, Zongli
  last_name: Xu
- first_name: Dale P.
  full_name: Sandler, Dale P.
  last_name: Sandler
- first_name: Archie
  full_name: Campbell, Archie
  last_name: Campbell
- first_name: Sarah E.
  full_name: Harris, Sarah E.
  last_name: Harris
- first_name: Andrew M.
  full_name: Mcintosh, Andrew M.
  last_name: Mcintosh
- first_name: Jack A.
  full_name: Taylor, Jack A.
  last_name: Taylor
- first_name: Paul
  full_name: Yousefi, Paul
  last_name: Yousefi
- first_name: Simon R.
  full_name: Cox, Simon R.
  last_name: Cox
- first_name: Kathryn L.
  full_name: Evans, Kathryn L.
  last_name: Evans
- first_name: Matthew Richard
  full_name: Robinson, Matthew Richard
  id: E5D42276-F5DA-11E9-8E24-6303E6697425
  last_name: Robinson
  orcid: 0000-0001-8982-8813
- first_name: Catalina A.
  full_name: Vallejos, Catalina A.
  last_name: Vallejos
- first_name: Riccardo E.
  full_name: Marioni, Riccardo E.
  last_name: Marioni
citation:
  ama: Bernabeu E, Chybowska AD, Kresovich JK, et al. Blood-based epigenome-wide association
    study and prediction of alcohol consumption. <i>Clinical Epigenetics</i>. 2025;17.
    doi:<a href="https://doi.org/10.1186/s13148-025-01818-y">10.1186/s13148-025-01818-y</a>
  apa: Bernabeu, E., Chybowska, A. D., Kresovich, J. K., Suderman, M., Mccartney,
    D. L., Hillary, R. F., … Marioni, R. E. (2025). Blood-based epigenome-wide association
    study and prediction of alcohol consumption. <i>Clinical Epigenetics</i>. Springer
    Nature. <a href="https://doi.org/10.1186/s13148-025-01818-y">https://doi.org/10.1186/s13148-025-01818-y</a>
  chicago: Bernabeu, Elena, Aleksandra D. Chybowska, Jacob K. Kresovich, Matthew Suderman,
    Daniel L. Mccartney, Robert F. Hillary, Janie Corley, et al. “Blood-Based Epigenome-Wide
    Association Study and Prediction of Alcohol Consumption.” <i>Clinical Epigenetics</i>.
    Springer Nature, 2025. <a href="https://doi.org/10.1186/s13148-025-01818-y">https://doi.org/10.1186/s13148-025-01818-y</a>.
  ieee: E. Bernabeu <i>et al.</i>, “Blood-based epigenome-wide association study and
    prediction of alcohol consumption,” <i>Clinical Epigenetics</i>, vol. 17. Springer
    Nature, 2025.
  ista: Bernabeu E, Chybowska AD, Kresovich JK, Suderman M, Mccartney DL, Hillary
    RF, Corley J, Valdés-Hernández MDC, Maniega SM, Bastin ME, Wardlaw JM, Xu Z, Sandler
    DP, Campbell A, Harris SE, Mcintosh AM, Taylor JA, Yousefi P, Cox SR, Evans KL,
    Robinson MR, Vallejos CA, Marioni RE. 2025. Blood-based epigenome-wide association
    study and prediction of alcohol consumption. Clinical Epigenetics. 17, 14.
  mla: Bernabeu, Elena, et al. “Blood-Based Epigenome-Wide Association Study and Prediction
    of Alcohol Consumption.” <i>Clinical Epigenetics</i>, vol. 17, 14, Springer Nature,
    2025, doi:<a href="https://doi.org/10.1186/s13148-025-01818-y">10.1186/s13148-025-01818-y</a>.
  short: E. Bernabeu, A.D. Chybowska, J.K. Kresovich, M. Suderman, D.L. Mccartney,
    R.F. Hillary, J. Corley, M.D.C. Valdés-Hernández, S.M. Maniega, M.E. Bastin, J.M.
    Wardlaw, Z. Xu, D.P. Sandler, A. Campbell, S.E. Harris, A.M. Mcintosh, J.A. Taylor,
    P. Yousefi, S.R. Cox, K.L. Evans, M.R. Robinson, C.A. Vallejos, R.E. Marioni,
    Clinical Epigenetics 17 (2025).
date_created: 2025-02-16T23:02:33Z
date_published: 2025-01-25T00:00:00Z
date_updated: 2025-09-30T10:31:08Z
day: '25'
ddc:
- '570'
department:
- _id: MaRo
doi: 10.1186/s13148-025-01818-y
external_id:
  isi:
  - '001406495600001'
  pmid:
  - '39863868'
file:
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  date_created: 2025-02-17T08:44:23Z
  date_updated: 2025-02-17T08:44:23Z
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has_accepted_license: '1'
intvolume: '        17'
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language:
- iso: eng
month: '01'
oa: 1
oa_version: Published Version
pmid: 1
project:
- _id: 9B8D11D6-BA93-11EA-9121-9846C619BF3A
  grant_number: PCEGP3_181181
  name: Improving estimation and prediction of common complex disease risk
publication: Clinical Epigenetics
publication_identifier:
  eissn:
  - 1868-7083
  issn:
  - 1868-7075
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
scopus_import: '1'
status: public
title: Blood-based epigenome-wide association study and prediction of alcohol consumption
tmp:
  image: /images/cc_by.png
  legal_code_url: https://creativecommons.org/licenses/by/4.0/legalcode
  name: Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)
  short: CC BY (4.0)
type: journal_article
user_id: 317138e5-6ab7-11ef-aa6d-ffef3953e345
volume: 17
year: '2025'
...
