Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects

There is strong evidence for a genetic contribution to non-syndromic congenital heart defects (CHDs). However, exome- and genome-wide studies conducted at the variant and gene-level have identified few genome-wide significant CHD-related genes. Gene-set analyses are a useful complement to such studi...
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Autor*in:	Fadi I. Musfee [verfasserIn] A. J. Agopian [verfasserIn] Elizabeth Goldmuntz [verfasserIn] Hakon Hakonarson [verfasserIn] Bernice E. Morrow [verfasserIn] Deanne M. Taylor [verfasserIn] Martin Tristani-Firouzi [verfasserIn] W. Scott Watkins [verfasserIn] Mark Yandell [verfasserIn] Laura E. Mitchell [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	association case-control case-parent trios congenital conotruncal heart

Übergeordnetes Werk:	In: Genes - MDPI AG, 2010, 12(2021), 5, p 655
Übergeordnetes Werk:	volume:12 ; year:2021 ; number:5, p 655

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/genes12050655

Katalog-ID:	DOAJ062413430

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spelling	10.3390/genes12050655 doi (DE-627)DOAJ062413430 (DE-599)DOAJff2d5ae1920e48b2a9c57ee9f2c7e945 DE-627 ger DE-627 rakwb eng QH426-470 Fadi I. Musfee verfasserin aut Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier There is strong evidence for a genetic contribution to non-syndromic congenital heart defects (CHDs). However, exome- and genome-wide studies conducted at the variant and gene-level have identified few genome-wide significant CHD-related genes. Gene-set analyses are a useful complement to such studies and candidate gene-set analyses of rare variants have provided insight into the genetics of CHDs. However, similar analyses have not been conducted using data on common genetic variants. Consequently, we conducted common variant analyses of 15 CHD candidate gene-sets, using data from two common types of CHDs: conotruncal heart defects (1431 cases) and left ventricular outflow tract defects (509 cases). After Bonferroni correction for evaluation of multiple gene-sets, the cytoskeletal gene-set was significantly associated with conotruncal heart defects (β<sub<S</sub< = 0.09; 95% confidence interval (CI) 0.03–0.15). This association was stronger when analyses were restricted to the sub-set of cytoskeletal genes that have been observed to harbor rare damaging genotypes in at least two CHD cases (β<sub<S</sub< = 0.32, 95% CI 0.08–0.56). These findings add to the evidence linking cytoskeletal genes to CHDs and suggest that, for cytoskeletal genes, common variation may contribute to the risk of CHDs. association case-control case-parent trios congenital conotruncal heart Genetics A. J. Agopian verfasserin aut Elizabeth Goldmuntz verfasserin aut Hakon Hakonarson verfasserin aut Bernice E. Morrow verfasserin aut Deanne M. Taylor verfasserin aut Martin Tristani-Firouzi verfasserin aut W. Scott Watkins verfasserin aut Mark Yandell verfasserin aut Laura E. Mitchell verfasserin aut In Genes MDPI AG, 2010 12(2021), 5, p 655 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:5, p 655 https://doi.org/10.3390/genes12050655 kostenfrei https://doaj.org/article/ff2d5ae1920e48b2a9c57ee9f2c7e945 kostenfrei https://www.mdpi.com/2073-4425/12/5/655 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 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_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 5, p 655
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allfieldsSound	10.3390/genes12050655 doi (DE-627)DOAJ062413430 (DE-599)DOAJff2d5ae1920e48b2a9c57ee9f2c7e945 DE-627 ger DE-627 rakwb eng QH426-470 Fadi I. Musfee verfasserin aut Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier There is strong evidence for a genetic contribution to non-syndromic congenital heart defects (CHDs). However, exome- and genome-wide studies conducted at the variant and gene-level have identified few genome-wide significant CHD-related genes. Gene-set analyses are a useful complement to such studies and candidate gene-set analyses of rare variants have provided insight into the genetics of CHDs. However, similar analyses have not been conducted using data on common genetic variants. Consequently, we conducted common variant analyses of 15 CHD candidate gene-sets, using data from two common types of CHDs: conotruncal heart defects (1431 cases) and left ventricular outflow tract defects (509 cases). After Bonferroni correction for evaluation of multiple gene-sets, the cytoskeletal gene-set was significantly associated with conotruncal heart defects (β<sub<S</sub< = 0.09; 95% confidence interval (CI) 0.03–0.15). This association was stronger when analyses were restricted to the sub-set of cytoskeletal genes that have been observed to harbor rare damaging genotypes in at least two CHD cases (β<sub<S</sub< = 0.32, 95% CI 0.08–0.56). These findings add to the evidence linking cytoskeletal genes to CHDs and suggest that, for cytoskeletal genes, common variation may contribute to the risk of CHDs. association case-control case-parent trios congenital conotruncal heart Genetics A. J. Agopian verfasserin aut Elizabeth Goldmuntz verfasserin aut Hakon Hakonarson verfasserin aut Bernice E. Morrow verfasserin aut Deanne M. Taylor verfasserin aut Martin Tristani-Firouzi verfasserin aut W. Scott Watkins verfasserin aut Mark Yandell verfasserin aut Laura E. Mitchell verfasserin aut In Genes MDPI AG, 2010 12(2021), 5, p 655 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:5, p 655 https://doi.org/10.3390/genes12050655 kostenfrei https://doaj.org/article/ff2d5ae1920e48b2a9c57ee9f2c7e945 kostenfrei https://www.mdpi.com/2073-4425/12/5/655 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 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_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 5, p 655
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authorswithroles_txt_mv	Fadi I. Musfee @@aut@@ A. J. Agopian @@aut@@ Elizabeth Goldmuntz @@aut@@ Hakon Hakonarson @@aut@@ Bernice E. Morrow @@aut@@ Deanne M. Taylor @@aut@@ Martin Tristani-Firouzi @@aut@@ W. Scott Watkins @@aut@@ Mark Yandell @@aut@@ Laura E. Mitchell @@aut@@
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callnumber-first	Q - Science
author	Fadi I. Musfee
spellingShingle	Fadi I. Musfee misc QH426-470 misc association misc case-control misc case-parent trios misc congenital misc conotruncal misc heart misc Genetics Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects
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topic_title	QH426-470 Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects association case-control case-parent trios congenital conotruncal heart
topic	misc QH426-470 misc association misc case-control misc case-parent trios misc congenital misc conotruncal misc heart misc Genetics
topic_unstemmed	misc QH426-470 misc association misc case-control misc case-parent trios misc congenital misc conotruncal misc heart misc Genetics
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title	Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects
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title_full	Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects
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author_browse	Fadi I. Musfee A. J. Agopian Elizabeth Goldmuntz Hakon Hakonarson Bernice E. Morrow Deanne M. Taylor Martin Tristani-Firouzi W. Scott Watkins Mark Yandell Laura E. Mitchell
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title_sort	common variation in cytoskeletal genes is associated with conotruncal heart defects
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title_auth	Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects
abstract	There is strong evidence for a genetic contribution to non-syndromic congenital heart defects (CHDs). However, exome- and genome-wide studies conducted at the variant and gene-level have identified few genome-wide significant CHD-related genes. Gene-set analyses are a useful complement to such studies and candidate gene-set analyses of rare variants have provided insight into the genetics of CHDs. However, similar analyses have not been conducted using data on common genetic variants. Consequently, we conducted common variant analyses of 15 CHD candidate gene-sets, using data from two common types of CHDs: conotruncal heart defects (1431 cases) and left ventricular outflow tract defects (509 cases). After Bonferroni correction for evaluation of multiple gene-sets, the cytoskeletal gene-set was significantly associated with conotruncal heart defects (β<sub<S</sub< = 0.09; 95% confidence interval (CI) 0.03–0.15). This association was stronger when analyses were restricted to the sub-set of cytoskeletal genes that have been observed to harbor rare damaging genotypes in at least two CHD cases (β<sub<S</sub< = 0.32, 95% CI 0.08–0.56). These findings add to the evidence linking cytoskeletal genes to CHDs and suggest that, for cytoskeletal genes, common variation may contribute to the risk of CHDs.
abstractGer	There is strong evidence for a genetic contribution to non-syndromic congenital heart defects (CHDs). However, exome- and genome-wide studies conducted at the variant and gene-level have identified few genome-wide significant CHD-related genes. Gene-set analyses are a useful complement to such studies and candidate gene-set analyses of rare variants have provided insight into the genetics of CHDs. However, similar analyses have not been conducted using data on common genetic variants. Consequently, we conducted common variant analyses of 15 CHD candidate gene-sets, using data from two common types of CHDs: conotruncal heart defects (1431 cases) and left ventricular outflow tract defects (509 cases). After Bonferroni correction for evaluation of multiple gene-sets, the cytoskeletal gene-set was significantly associated with conotruncal heart defects (β<sub<S</sub< = 0.09; 95% confidence interval (CI) 0.03–0.15). This association was stronger when analyses were restricted to the sub-set of cytoskeletal genes that have been observed to harbor rare damaging genotypes in at least two CHD cases (β<sub<S</sub< = 0.32, 95% CI 0.08–0.56). These findings add to the evidence linking cytoskeletal genes to CHDs and suggest that, for cytoskeletal genes, common variation may contribute to the risk of CHDs.
abstract_unstemmed	There is strong evidence for a genetic contribution to non-syndromic congenital heart defects (CHDs). However, exome- and genome-wide studies conducted at the variant and gene-level have identified few genome-wide significant CHD-related genes. Gene-set analyses are a useful complement to such studies and candidate gene-set analyses of rare variants have provided insight into the genetics of CHDs. However, similar analyses have not been conducted using data on common genetic variants. Consequently, we conducted common variant analyses of 15 CHD candidate gene-sets, using data from two common types of CHDs: conotruncal heart defects (1431 cases) and left ventricular outflow tract defects (509 cases). After Bonferroni correction for evaluation of multiple gene-sets, the cytoskeletal gene-set was significantly associated with conotruncal heart defects (β<sub<S</sub< = 0.09; 95% confidence interval (CI) 0.03–0.15). This association was stronger when analyses were restricted to the sub-set of cytoskeletal genes that have been observed to harbor rare damaging genotypes in at least two CHD cases (β<sub<S</sub< = 0.32, 95% CI 0.08–0.56). These findings add to the evidence linking cytoskeletal genes to CHDs and suggest that, for cytoskeletal genes, common variation may contribute to the risk of CHDs.
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title_short	Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects
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