New insights and updated guidelines for epigenome-wide association studies

Lisa H. Chadwick; Akira Sawa; Ivana V. Yang; Andrea Baccarelli; Xandra O. Breakefield; Hong Wen Deng; Dana C. Dolinoy; M. Daniele Fallin; Nina T. Holland; E. Andres Houseman; Stavros Lomvardas; Mahendra Rao; John S. Satterlee; Frederick L. Tyson; Pandurangan Vijayanand; John M. Greally

doi:10.1016/j.nepig.2014.10.004

New insights and updated guidelines for epigenome-wide association studies

Lisa H. Chadwick, Akira Sawa, Ivana V. Yang, Andrea Baccarelli, Xandra O. Breakefield, Hong Wen Deng, Dana C. Dolinoy, M. Daniele Fallin, Nina T. Holland, E. Andres Houseman, Stavros Lomvardas, Mahendra Rao, John S. Satterlee, Frederick L. Tyson, Pandurangan Vijayanand, John M. Greally

Research output: Contribution to journal › Review article › peer-review

26 Scopus citations

Abstract

Epigenetic dysregulation in disease is increasingly studied as a potential mediator of pathophysiology. The epigenetic events are believed to occur in somatic cells, but the limited changes of DNA methylation in studies to date indicate that only subsets of the cells tested undergo epigenetic dysregulation. The recognition of this subpopulation effect indicates the need for care in design and execution of epigenome-wide association studies (EWASs), paying particular attention to confounding sources of variability. To maximize the sensitivity of the EWASs, ideally, the cell type mediating the disease should be tested, which is not always practical or ethical in human subjects. The value of using accessible cells as surrogates for the target, disease-mediating cell type has not been rigorously tested to date. In this review, participants in a workshop convened by the National Institutes of Health update EWAS design and execution guidelines to reflect new insights in the field.

Original language	English (US)
Pages (from-to)	14-19
Number of pages	6
Journal	Neuroepigenetics
Volume	1
DOIs	https://doi.org/10.1016/j.nepig.2014.10.004
State	Published - Jan 1 2015

Keywords

Association
DNA methylation
Disease
Epigenetic
Genome-wide

ASJC Scopus subject areas

Biochemistry
Developmental Neuroscience
Cognitive Neuroscience
Cellular and Molecular Neuroscience
Biological Psychiatry

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1016/j.nepig.2014.10.004

Cite this

Chadwick, L. H., Sawa, A., Yang, I. V., Baccarelli, A., Breakefield, X. O., Deng, H. W., Dolinoy, D. C., Fallin, M. D., Holland, N. T., Houseman, E. A., Lomvardas, S., Rao, M., Satterlee, J. S., Tyson, F. L., Vijayanand, P., & Greally, J. M. (2015). New insights and updated guidelines for epigenome-wide association studies. Neuroepigenetics, 1, 14-19. https://doi.org/10.1016/j.nepig.2014.10.004

@article{7acd1b9e79834853b4091e7e55fabe29,

title = "New insights and updated guidelines for epigenome-wide association studies",

abstract = "Epigenetic dysregulation in disease is increasingly studied as a potential mediator of pathophysiology. The epigenetic events are believed to occur in somatic cells, but the limited changes of DNA methylation in studies to date indicate that only subsets of the cells tested undergo epigenetic dysregulation. The recognition of this subpopulation effect indicates the need for care in design and execution of epigenome-wide association studies (EWASs), paying particular attention to confounding sources of variability. To maximize the sensitivity of the EWASs, ideally, the cell type mediating the disease should be tested, which is not always practical or ethical in human subjects. The value of using accessible cells as surrogates for the target, disease-mediating cell type has not been rigorously tested to date. In this review, participants in a workshop convened by the National Institutes of Health update EWAS design and execution guidelines to reflect new insights in the field.",

keywords = "Association, DNA methylation, Disease, Epigenetic, Genome-wide",

author = "Chadwick, {Lisa H.} and Akira Sawa and Yang, {Ivana V.} and Andrea Baccarelli and Breakefield, {Xandra O.} and Deng, {Hong Wen} and Dolinoy, {Dana C.} and Fallin, {M. Daniele} and Holland, {Nina T.} and Houseman, {E. Andres} and Stavros Lomvardas and Mahendra Rao and Satterlee, {John S.} and Tyson, {Frederick L.} and Pandurangan Vijayanand and Greally, {John M.}",

note = "Publisher Copyright: {\textcopyright} 2014 The Authors.",

year = "2015",

month = jan,

day = "1",

doi = "10.1016/j.nepig.2014.10.004",

language = "English (US)",

volume = "1",

pages = "14--19",

journal = "Neuroepigenetics",

issn = "2214-7845",

publisher = "Elsevier BV",

}

TY - JOUR

T1 - New insights and updated guidelines for epigenome-wide association studies

AU - Chadwick, Lisa H.

AU - Sawa, Akira

AU - Yang, Ivana V.

AU - Baccarelli, Andrea

AU - Breakefield, Xandra O.

AU - Deng, Hong Wen

AU - Dolinoy, Dana C.

AU - Fallin, M. Daniele

AU - Holland, Nina T.

AU - Houseman, E. Andres

AU - Lomvardas, Stavros

AU - Rao, Mahendra

AU - Satterlee, John S.

AU - Tyson, Frederick L.

AU - Vijayanand, Pandurangan

AU - Greally, John M.

PY - 2015/1/1

Y1 - 2015/1/1

N2 - Epigenetic dysregulation in disease is increasingly studied as a potential mediator of pathophysiology. The epigenetic events are believed to occur in somatic cells, but the limited changes of DNA methylation in studies to date indicate that only subsets of the cells tested undergo epigenetic dysregulation. The recognition of this subpopulation effect indicates the need for care in design and execution of epigenome-wide association studies (EWASs), paying particular attention to confounding sources of variability. To maximize the sensitivity of the EWASs, ideally, the cell type mediating the disease should be tested, which is not always practical or ethical in human subjects. The value of using accessible cells as surrogates for the target, disease-mediating cell type has not been rigorously tested to date. In this review, participants in a workshop convened by the National Institutes of Health update EWAS design and execution guidelines to reflect new insights in the field.

AB - Epigenetic dysregulation in disease is increasingly studied as a potential mediator of pathophysiology. The epigenetic events are believed to occur in somatic cells, but the limited changes of DNA methylation in studies to date indicate that only subsets of the cells tested undergo epigenetic dysregulation. The recognition of this subpopulation effect indicates the need for care in design and execution of epigenome-wide association studies (EWASs), paying particular attention to confounding sources of variability. To maximize the sensitivity of the EWASs, ideally, the cell type mediating the disease should be tested, which is not always practical or ethical in human subjects. The value of using accessible cells as surrogates for the target, disease-mediating cell type has not been rigorously tested to date. In this review, participants in a workshop convened by the National Institutes of Health update EWAS design and execution guidelines to reflect new insights in the field.

KW - Association

KW - DNA methylation

KW - Disease

KW - Epigenetic

KW - Genome-wide

UR - http://www.scopus.com/inward/record.url?scp=84922732240&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84922732240&partnerID=8YFLogxK

U2 - 10.1016/j.nepig.2014.10.004

DO - 10.1016/j.nepig.2014.10.004

M3 - Review article

AN - SCOPUS:84922732240

SN - 2214-7845

VL - 1

SP - 14

EP - 19

JO - Neuroepigenetics

JF - Neuroepigenetics

ER -

New insights and updated guidelines for epigenome-wide association studies

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this