• Medientyp: E-Artikel
  • Titel: Parent of origin genetic effects on methylation in humans are common and influence complex trait variation
  • Beteiligte: Zeng, Yanni; Amador, Carmen; Xia, Charley; Marioni, Riccardo; Sproul, Duncan; Walker, Rosie M.; Morris, Stewart W.; Bretherick, Andrew; Canela-Xandri, Oriol; Boutin, Thibaud S.; Clark, David W.; Campbell, Archie; Rawlik, Konrad; Hayward, Caroline; Nagy, Reka; Tenesa, Albert; Porteous, David J.; Wilson, James F.; Deary, Ian J.; Evans, Kathryn L.; McIntosh, Andrew M.; Navarro, Pau; Haley, Chris S.
  • Erschienen: Springer Science and Business Media LLC, 2019
  • Erschienen in: Nature Communications
  • Sprache: Englisch
  • DOI: 10.1038/s41467-019-09301-y
  • ISSN: 2041-1723
  • Schlagwörter: General Physics and Astronomy ; General Biochemistry, Genetics and Molecular Biology ; General Chemistry ; Multidisciplinary
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  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Parent-of-origin effects (POE) exist when there is differential expression of alleles inherited from the two parents. A genome-wide scan for POE on DNA methylation at 639,238 CpGs in 5,101 individuals identifies 733 independent methylation CpGs potentially influenced by POE at a false discovery rate ≤ 0.05 of which 331 had not previously been identified. <jats:italic>Cis</jats:italic> and <jats:italic>trans</jats:italic> methylation quantitative trait loci (mQTL) regulate methylation variation through POE at 54% (399/733) of the identified POE-influenced CpGs. The combined results provide strong evidence for previously unidentified POE-influenced CpGs at 171 independent loci. Methylation variation at 14 of the POE-influenced CpGs is associated with multiple metabolic traits. A phenome-wide association analysis using the POE mQTL SNPs identifies a previously unidentified imprinted locus associated with waist circumference. These results provide a high resolution population-level map for POE on DNA methylation sites, their local and distant regulators and potential consequences for complex traits.</jats:p>
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