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dc.contributor.authorHannon, E
dc.contributor.authorGorrie-Stone, TJ
dc.contributor.authorSmart, MC
dc.contributor.authorBurrage, J
dc.contributor.authorHughes, A
dc.contributor.authorBao, Y
dc.contributor.authorKumari, M
dc.contributor.authorSchalkwyk, LC
dc.contributor.authorMill, J
dc.date.accessioned2019-01-28T14:34:59Z
dc.date.issued2018-10-25
dc.description.abstractCharacterizing the complex relationship between genetic, epigenetic, and transcriptomic variation has the potential to increase understanding about the mechanisms underpinning health and disease phenotypes. We undertook a comprehensive analysis of common genetic variation on DNA methylation (DNAm) by using the Illumina EPIC array to profile samples from the UK Household Longitudinal study. We identified 12,689,548 significant DNA methylation quantitative trait loci (mQTL) associations (p < 6.52 × 10−14) occurring between 2,907,234 genetic variants and 93,268 DNAm sites, including a large number not identified by previous DNAm-profiling methods. We demonstrate the utility of these data for interpreting the functional consequences of common genetic variation associated with > 60 human traits by using summary-data-based Mendelian randomization (SMR) to identify 1,662 pleiotropic associations between 36 complex traits and 1,246 DNAm sites. We also use SMR to characterize the relationship between DNAm and gene expression and thereby identify 6,798 pleiotropic associations between 5,420 DNAm sites and the transcription of 1,702 genes. Our mQTL database and SMR results are available via a searchable online database as a resource to the research community.en_GB
dc.description.sponsorshipEconomic and Social Research Council (ESRC)en_GB
dc.description.sponsorshipMedical Research Council (MRC)en_GB
dc.identifier.citationVol. 103 (5), pp. 654 - 665en_GB
dc.identifier.doi10.1016/j.ajhg.2018.09.007
dc.identifier.grantnumberES/ K005146/1en_GB
dc.identifier.grantnumberES/N00812X/1en_GB
dc.identifier.grantnumberES/M008592/1en_GB
dc.identifier.grantnumberRES-596-28-0001en_GB
dc.identifier.grantnumberK013807en_GB
dc.identifier.urihttp://hdl.handle.net/10871/35604
dc.language.isoenen_GB
dc.publisherElsevier (Cell Press)en_GB
dc.rights© The Authors. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/)en_GB
dc.titleLeveraging DNA-Methylation Quantitative-Trait Loci to Characterize the Relationship between Methylomic Variation, Gene Expression, and Complex Traitsen_GB
dc.typeArticleen_GB
dc.date.available2019-01-28T14:34:59Z
dc.identifier.issn0002-9297
dc.descriptionThis is the final published version. Available from Elsevier (Cell Press) via the DOI in this record.en_GB
dc.identifier.journalAmerican Journal of Human Geneticsen_GB
dc.rights.uricreativecommons.org/licenses/by/4.0/en_GB
dcterms.dateAccepted2018-09-14
rioxxterms.versionVoRen_GB
rioxxterms.licenseref.startdate2018-09-14
rioxxterms.typeJournal Article/Reviewen_GB
refterms.dateFCD2019-01-28T14:03:12Z
refterms.versionFCDVoR
refterms.dateFOA2019-01-28T14:35:21Z
refterms.panelAen_GB
refterms.depositExceptionnotEmployedAtUKHEI


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© The Authors. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/)
Except where otherwise noted, this item's licence is described as © The Authors. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/)