TY - JOUR
T1 - Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects
AU - Pediatric Cardiac Genomics Consortium
AU - Sewda, Anshuman
AU - Agopian, A. J.
AU - Goldmuntz, Elizabeth
AU - Hakonarson, Hakon
AU - Morrow, Bernice E.
AU - Musfee, Fadi
AU - Taylor, Deanne
AU - Mitchell, Laura E.
N1 - Publisher Copyright:
© 2020 Sewda et al.
PY - 2020/6
Y1 - 2020/6
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85086355969&partnerID=8YFLogxK
U2 - 10.1371/journal.pone.0234357
DO - 10.1371/journal.pone.0234357
M3 - Article
C2 - 32516339
AN - SCOPUS:85086355969
SN - 1932-6203
VL - 15
JO - PLoS ONE
JF - PLoS ONE
IS - 6
M1 - e0234357
ER -