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Genome-wide survey of parent-of-origin effects on DNA methylation identifies candidate imprinted loci in humans.


ABSTRACT: Genomic imprinting is an epigenetic mechanism leading to parent-of-origin silencing of alleles. So far, the precise number of imprinted regions in humans is uncertain. In this study, we leveraged genome-wide DNA methylation in whole blood measured longitudinally at three time points (birth, childhood and adolescence) and genome-wide association studies (GWAS) data in 740 mother-child duos from the Avon Longitudinal Study of parents and children to identify candidate imprinted loci. We reasoned that cis-meQTLs at genomic regions that were imprinted would show strong evidence of parent-of-origin associations with DNA methylation, enabling the detection of imprinted regions. Using this approach, we identified genome-wide significant cis-meQTLs that exhibited parent-of-origin effects (POEs) at 82 loci, 34 novel and 48 regions previously implicated in imprinting (3.7-10

SUBMITTER: Cuellar Partida G 

PROVIDER: S-EPMC6077796 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature

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Genome-wide survey of parent-of-origin effects on DNA methylation identifies candidate imprinted loci in humans.

Cuellar Partida Gabriel G   Laurin Charles C   Ring Susan M SM   Gaunt Tom R TR   McRae Allan F AF   Visscher Peter M PM   Montgomery Grant W GW   Martin Nicholas G NG   Hemani Gibran G   Suderman Matthew M   Relton Caroline L CL   Davey Smith George G   Evans David M DM  

Human molecular genetics 20180801 16


Genomic imprinting is an epigenetic mechanism leading to parent-of-origin silencing of alleles. So far, the precise number of imprinted regions in humans is uncertain. In this study, we leveraged genome-wide DNA methylation in whole blood measured longitudinally at three time points (birth, childhood and adolescence) and genome-wide association studies (GWAS) data in 740 mother-child duos from the Avon Longitudinal Study of parents and children to identify candidate imprinted loci. We reasoned t  ...[more]

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