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.
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