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

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 materna...
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Autor*in:	Anshuman Sewda [verfasserIn] A J Agopian [verfasserIn] Elizabeth Goldmuntz [verfasserIn] Hakon Hakonarson [verfasserIn] Bernice E Morrow [verfasserIn] Fadi Musfee [verfasserIn] Deanne Taylor [verfasserIn] Laura E Mitchell [verfasserIn] Pediatric Cardiac Genomics Consortium [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2020

Übergeordnetes Werk:	In: PLoS ONE - Public Library of Science (PLoS), 2007, 15(2020), 6, p e0234357
Übergeordnetes Werk:	volume:15 ; year:2020 ; number:6, p e0234357

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1371/journal.pone.0234357

Katalog-ID:	DOAJ010019731

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520			\|a 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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allfields	10.1371/journal.pone.0234357 doi (DE-627)DOAJ010019731 (DE-599)DOAJ1b8dfd9772464e2784ed2899545c8c23 DE-627 ger DE-627 rakwb eng Anshuman Sewda verfasserin aut Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects. 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Medicine R Science Q A J Agopian verfasserin aut Elizabeth Goldmuntz verfasserin aut Hakon Hakonarson verfasserin aut Bernice E Morrow verfasserin aut Fadi Musfee verfasserin aut Deanne Taylor verfasserin aut Laura E Mitchell verfasserin aut Pediatric Cardiac Genomics Consortium verfasserin aut In PLoS ONE Public Library of Science (PLoS), 2007 15(2020), 6, p e0234357 (DE-627)523574592 (DE-600)2267670-3 19326203 nnns volume:15 year:2020 number:6, p e0234357 https://doi.org/10.1371/journal.pone.0234357 kostenfrei https://doaj.org/article/1b8dfd9772464e2784ed2899545c8c23 kostenfrei https://doi.org/10.1371/journal.pone.0234357 kostenfrei https://doaj.org/toc/1932-6203 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_34 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_235 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2020 6, p e0234357
spelling	10.1371/journal.pone.0234357 doi (DE-627)DOAJ010019731 (DE-599)DOAJ1b8dfd9772464e2784ed2899545c8c23 DE-627 ger DE-627 rakwb eng Anshuman Sewda verfasserin aut Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects. 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Medicine R Science Q A J Agopian verfasserin aut Elizabeth Goldmuntz verfasserin aut Hakon Hakonarson verfasserin aut Bernice E Morrow verfasserin aut Fadi Musfee verfasserin aut Deanne Taylor verfasserin aut Laura E Mitchell verfasserin aut Pediatric Cardiac Genomics Consortium verfasserin aut In PLoS ONE Public Library of Science (PLoS), 2007 15(2020), 6, p e0234357 (DE-627)523574592 (DE-600)2267670-3 19326203 nnns volume:15 year:2020 number:6, p e0234357 https://doi.org/10.1371/journal.pone.0234357 kostenfrei https://doaj.org/article/1b8dfd9772464e2784ed2899545c8c23 kostenfrei https://doi.org/10.1371/journal.pone.0234357 kostenfrei https://doaj.org/toc/1932-6203 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_34 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_235 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2020 6, p e0234357
allfields_unstemmed	10.1371/journal.pone.0234357 doi (DE-627)DOAJ010019731 (DE-599)DOAJ1b8dfd9772464e2784ed2899545c8c23 DE-627 ger DE-627 rakwb eng Anshuman Sewda verfasserin aut Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects. 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Medicine R Science Q A J Agopian verfasserin aut Elizabeth Goldmuntz verfasserin aut Hakon Hakonarson verfasserin aut Bernice E Morrow verfasserin aut Fadi Musfee verfasserin aut Deanne Taylor verfasserin aut Laura E Mitchell verfasserin aut Pediatric Cardiac Genomics Consortium verfasserin aut In PLoS ONE Public Library of Science (PLoS), 2007 15(2020), 6, p e0234357 (DE-627)523574592 (DE-600)2267670-3 19326203 nnns volume:15 year:2020 number:6, p e0234357 https://doi.org/10.1371/journal.pone.0234357 kostenfrei https://doaj.org/article/1b8dfd9772464e2784ed2899545c8c23 kostenfrei https://doi.org/10.1371/journal.pone.0234357 kostenfrei https://doaj.org/toc/1932-6203 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_34 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_235 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2020 6, p e0234357
allfieldsGer	10.1371/journal.pone.0234357 doi (DE-627)DOAJ010019731 (DE-599)DOAJ1b8dfd9772464e2784ed2899545c8c23 DE-627 ger DE-627 rakwb eng Anshuman Sewda verfasserin aut Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects. 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Medicine R Science Q A J Agopian verfasserin aut Elizabeth Goldmuntz verfasserin aut Hakon Hakonarson verfasserin aut Bernice E Morrow verfasserin aut Fadi Musfee verfasserin aut Deanne Taylor verfasserin aut Laura E Mitchell verfasserin aut Pediatric Cardiac Genomics Consortium verfasserin aut In PLoS ONE Public Library of Science (PLoS), 2007 15(2020), 6, p e0234357 (DE-627)523574592 (DE-600)2267670-3 19326203 nnns volume:15 year:2020 number:6, p e0234357 https://doi.org/10.1371/journal.pone.0234357 kostenfrei https://doaj.org/article/1b8dfd9772464e2784ed2899545c8c23 kostenfrei https://doi.org/10.1371/journal.pone.0234357 kostenfrei https://doaj.org/toc/1932-6203 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_34 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_235 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2020 6, p e0234357
allfieldsSound	10.1371/journal.pone.0234357 doi (DE-627)DOAJ010019731 (DE-599)DOAJ1b8dfd9772464e2784ed2899545c8c23 DE-627 ger DE-627 rakwb eng Anshuman Sewda verfasserin aut Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects. 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Medicine R Science Q A J Agopian verfasserin aut Elizabeth Goldmuntz verfasserin aut Hakon Hakonarson verfasserin aut Bernice E Morrow verfasserin aut Fadi Musfee verfasserin aut Deanne Taylor verfasserin aut Laura E Mitchell verfasserin aut Pediatric Cardiac Genomics Consortium verfasserin aut In PLoS ONE Public Library of Science (PLoS), 2007 15(2020), 6, p e0234357 (DE-627)523574592 (DE-600)2267670-3 19326203 nnns volume:15 year:2020 number:6, p e0234357 https://doi.org/10.1371/journal.pone.0234357 kostenfrei https://doaj.org/article/1b8dfd9772464e2784ed2899545c8c23 kostenfrei https://doi.org/10.1371/journal.pone.0234357 kostenfrei https://doaj.org/toc/1932-6203 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_34 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_235 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2020 6, p e0234357
language	English
source	In PLoS ONE 15(2020), 6, p e0234357 volume:15 year:2020 number:6, p e0234357
sourceStr	In PLoS ONE 15(2020), 6, p e0234357 volume:15 year:2020 number:6, p e0234357
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Medicine R Science Q
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container_title	PLoS ONE
authorswithroles_txt_mv	Anshuman Sewda @@aut@@ A J Agopian @@aut@@ Elizabeth Goldmuntz @@aut@@ Hakon Hakonarson @@aut@@ Bernice E Morrow @@aut@@ Fadi Musfee @@aut@@ Deanne Taylor @@aut@@ Laura E Mitchell @@aut@@ Pediatric Cardiac Genomics Consortium @@aut@@
publishDateDaySort_date	2020-01-01T00:00:00Z
hierarchy_top_id	523574592
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language_de	englisch
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author	Anshuman Sewda
spellingShingle	Anshuman Sewda misc Medicine misc R misc Science misc Q Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects.
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topic_title	Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects
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title	Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects.
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title_full	Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects
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author_browse	Anshuman Sewda A J Agopian Elizabeth Goldmuntz Hakon Hakonarson Bernice E Morrow Fadi Musfee Deanne Taylor Laura E Mitchell Pediatric Cardiac Genomics Consortium
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title_sort	gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects
title_auth	Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects.
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.
abstractGer	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.
abstract_unstemmed	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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title_short	Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects.
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Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects.

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