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Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects

Author

Listed:
  • Anshuman Sewda
  • A J Agopian
  • Elizabeth Goldmuntz
  • Hakon Hakonarson
  • Bernice E Morrow
  • Fadi Musfee
  • Deanne Taylor
  • Laura E Mitchell
  • on behalf of the Pediatric Cardiac Genomics Consortium

Abstract

Congenital heart defects (CHDs) affect approximately 1% of newborns. Epidemiological studies have identified several genetically-mediated maternal phenotypes (e.g., pregestational diabetes, chronic hypertension) that are associated with the risk of CHDs in offspring. However, the role of the maternal genome in determining CHD risk has not been defined. We present findings from gene-level, genome-wide studies that link CHDs to maternal effect genes as well as to maternal genes related to hypertension and proteostasis. Maternal effect genes, which provide the mRNAs and proteins in the oocyte that guide early embryonic development before zygotic gene activation, have not previously been implicated in CHD risk. Our findings support a role for and suggest new pathways by which the maternal genome may contribute to the development of CHDs in offspring.

Suggested Citation

  • Anshuman Sewda & A J Agopian & Elizabeth Goldmuntz & Hakon Hakonarson & Bernice E Morrow & Fadi Musfee & Deanne Taylor & Laura E Mitchell & on behalf of the Pediatric Cardiac Genomics Consortium, 2020. "Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects," PLOS ONE, Public Library of Science, vol. 15(6), pages 1-15, June.
  • Handle: RePEc:plo:pone00:0234357
    DOI: 10.1371/journal.pone.0234357
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    References listed on IDEAS

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    1. Bryan N Howie & Peter Donnelly & Jonathan Marchini, 2009. "A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies," PLOS Genetics, Public Library of Science, vol. 5(6), pages 1-15, June.
    2. Thomas Juan & Charles Géminard & Jean-Baptiste Coutelis & Delphine Cerezo & Sophie Polès & Stéphane Noselli & Maximilian Fürthauer, 2018. "Myosin1D is an evolutionarily conserved regulator of animal left–right asymmetry," Nature Communications, Nature, vol. 9(1), pages 1-12, December.
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