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Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

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dc.contributor.author Min, Josine L.
dc.contributor.author Soriano Tarraga, Carolina
dc.contributor.author Giralt-Steinhauer, Eva
dc.contributor.author Ruiz Arenas, Carlos, 1990-
dc.contributor.author Jiménez Conde, Jordi
dc.contributor.author Roquer, Jaume
dc.contributor.author González, Juan Ramón
dc.contributor.author Bustamante Pineda, Mariona
dc.contributor.author Sunyer Deu, Jordi
dc.contributor.author Relton, Caroline
dc.date.accessioned 2022-06-30T06:52:52Z
dc.date.available 2022-06-30T06:52:52Z
dc.date.issued 2021
dc.identifier.citation Min JL, Hemani G, Hannon E, Dekkers KF, Castillo-Fernandez J, Luijk R, et al. Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation. Nat Genet. 2021 Sep; 53(9): 1311-21. DOI: 10.1038/s41588-021-00923-x
dc.identifier.issn 1061-4036
dc.identifier.uri http://hdl.handle.net/10230/53647
dc.description.abstract Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to understand mechanisms underpinning gene regulation and disease. In the present study, we describe results of DNAm quantitative trait locus (mQTL) analyses on 32,851 participants, identifying genetic variants associated with DNAm at 420,509 DNAm sites in blood. We present a database of >270,000 independent mQTLs, of which 8.5% comprise long-range (trans) associations. Identified mQTL associations explain 15-17% of the additive genetic variance of DNAm. We show that the genetic architecture of DNAm levels is highly polygenic. Using shared genetic control between distal DNAm sites, we constructed networks, identifying 405 discrete genomic communities enriched for genomic annotations and complex traits. Shared genetic variants are associated with both DNAm levels and complex diseases, but only in a minority of cases do these associations reflect causal relationships from DNAm to trait or vice versa, indicating a more complex genotype-phenotype map than previously anticipated.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Nature Research
dc.rights © Springer Nature Publishing AG Min JL, Hemani G, Hannon E, Dekkers KF, Castillo-Fernandez J, Luijk R, et al. Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation. Nat Genet. 2021 Sep; 53(9): 1311-21 [http://dx.doi.org/10.1038/s41588-021-00923-x ]
dc.subject.other ADN
dc.subject.other Genotip
dc.subject.other Fenotip
dc.subject.other Genètica
dc.subject.other Metilació
dc.title Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1038/s41588-021-00923-x
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/acceptedVersion

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