Genome-epigenome interactions associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome

Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a complex disease of unknown etiology. Multiple studies point to disruptions in immune functioning in ME/CFS patients as well as specific genetic polymorphisms and alterations of the DNA methylome in lymphocytes. However, potential inter...

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Main Authors: Santiago Herrera, Wilfred C. de Vega, David Ashbrook, Suzanne D. Vernon, Patrick O. McGowan
Format: Article
Language:English
Published: Taylor & Francis Group 2018-12-01
Series:Epigenetics
Subjects:
Online Access:http://dx.doi.org/10.1080/15592294.2018.1549769
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author Santiago Herrera
Wilfred C. de Vega
David Ashbrook
Suzanne D. Vernon
Patrick O. McGowan
author_facet Santiago Herrera
Wilfred C. de Vega
David Ashbrook
Suzanne D. Vernon
Patrick O. McGowan
author_sort Santiago Herrera
collection DOAJ
description Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a complex disease of unknown etiology. Multiple studies point to disruptions in immune functioning in ME/CFS patients as well as specific genetic polymorphisms and alterations of the DNA methylome in lymphocytes. However, potential interactions between DNA methylation and genetic background in relation to ME/CFS have not been examined. In this study we explored this association by characterizing the epigenetic (~480 thousand CpG loci) and genetic (~4.3 million SNPs) variation between cohorts of ME/CFS patients and healthy controls. We found significant associations of DNA methylation states in T-lymphocytes at several CpG loci and regions with ME/CFS phenotype. These methylation anomalies are in close proximity to genes involved with immune function and cellular metabolism. Finally, we found significant correlations of genotypes with methylation modifications associated with ME/CFS. The findings from this study highlight the role of epigenetic and genetic interactions in complex diseases, and suggest several genetic and epigenetic elements potentially involved in the mechanisms of disease in ME/CFS.
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spelling doaj.art-4dcd742e79c741a085ae1c5f575526e12023-09-21T13:09:21ZengTaylor & Francis GroupEpigenetics1559-22941559-23082018-12-0113121174119010.1080/15592294.2018.15497691549769Genome-epigenome interactions associated with Myalgic Encephalomyelitis/Chronic Fatigue SyndromeSantiago Herrera0Wilfred C. de Vega1David Ashbrook2Suzanne D. Vernon3Patrick O. McGowan4University of TorontoUniversity of TorontoUniversity of TorontoSolve ME/CFS InitiativeUniversity of TorontoMyalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a complex disease of unknown etiology. Multiple studies point to disruptions in immune functioning in ME/CFS patients as well as specific genetic polymorphisms and alterations of the DNA methylome in lymphocytes. However, potential interactions between DNA methylation and genetic background in relation to ME/CFS have not been examined. In this study we explored this association by characterizing the epigenetic (~480 thousand CpG loci) and genetic (~4.3 million SNPs) variation between cohorts of ME/CFS patients and healthy controls. We found significant associations of DNA methylation states in T-lymphocytes at several CpG loci and regions with ME/CFS phenotype. These methylation anomalies are in close proximity to genes involved with immune function and cellular metabolism. Finally, we found significant correlations of genotypes with methylation modifications associated with ME/CFS. The findings from this study highlight the role of epigenetic and genetic interactions in complex diseases, and suggest several genetic and epigenetic elements potentially involved in the mechanisms of disease in ME/CFS.http://dx.doi.org/10.1080/15592294.2018.1549769dna methylationgenotypechronic fatigue syndromemyalgic encephalomyelitismqtl
spellingShingle Santiago Herrera
Wilfred C. de Vega
David Ashbrook
Suzanne D. Vernon
Patrick O. McGowan
Genome-epigenome interactions associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome
Epigenetics
dna methylation
genotype
chronic fatigue syndrome
myalgic encephalomyelitis
mqtl
title Genome-epigenome interactions associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome
title_full Genome-epigenome interactions associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome
title_fullStr Genome-epigenome interactions associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome
title_full_unstemmed Genome-epigenome interactions associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome
title_short Genome-epigenome interactions associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome
title_sort genome epigenome interactions associated with myalgic encephalomyelitis chronic fatigue syndrome
topic dna methylation
genotype
chronic fatigue syndrome
myalgic encephalomyelitis
mqtl
url http://dx.doi.org/10.1080/15592294.2018.1549769
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AT davidashbrook genomeepigenomeinteractionsassociatedwithmyalgicencephalomyelitischronicfatiguesyndrome
AT suzannedvernon genomeepigenomeinteractionsassociatedwithmyalgicencephalomyelitischronicfatiguesyndrome
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