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Volumn 24, Issue 1, 2015, Pages 265-273

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; FORKHEAD TRANSCRIPTION FACTOR; GA BINDING PROTEIN; LYSOSOME ASSOCIATED MEMBRANE PROTEIN; LYSOZYME LIKE PROTEIN 2; MICRORNA; NUCLEAR RECEPTOR NUR77; RNA; SYNAPTOPHYSIN; TRANSCRIPTION FACTOR CTCF; TRANSCRIPTION FACTOR FOXC2; TRANSCRIPTION FACTOR GATA 1; TRANSCRIPTION FACTOR GATA 2; TRANSCRIPTION FACTOR TAL1; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZINC FINGER PROTEIN 438; ZINC FINGER PROTEIN C2H2; SYNPR PROTEIN, HUMAN;

EID: 84922530700     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu420     Document Type: Article
Times cited : (25)

References (61)
  • 1
    • 0035289344 scopus 로고    scopus 로고
    • Racial and temporal variations in the prevalence of heart defects
    • Botto, L.D., Correa, A. and Erickson, J.D. (2001) Racial and temporal variations in the prevalence of heart defects. Pediatrics, 107, E32.
    • (2001) Pediatrics , vol.107 , pp. E32
    • Botto, L.D.1    Correa, A.2    Erickson, J.D.3
  • 3
    • 59149100748 scopus 로고    scopus 로고
    • Congenital heart disease in 111 225 births in Belgium: birth prevalence, treatment and survival in the 21st century
    • Moons,P., Sluysmans, T., DeWolf, D., Massin, M., Suys, B., Benatar, A. and Gewillig, M. (2009) Congenital heart disease in 111 225 births in Belgium: birth prevalence, treatment and survival in the 21st century. Acta Paediatr., 98, 472-477.
    • (2009) Acta Paediatr. , vol.98 , pp. 472-477
    • Moons, P.1    Sluysmans, T.2    DeWolf, D.3    Massin, M.4    Suys, B.5    Benatar, A.6    Gewillig, M.7
  • 5
    • 67650552605 scopus 로고    scopus 로고
    • Trends in hospitalizations for adults with congenital heart disease in the U.S
    • Opotowsky, A.R., Siddiqi, O.K. and Webb, G.D. (2009) Trends in hospitalizations for adults with congenital heart disease in the U.S. J. Am. Coll. Cardiol., 54, 460-467.
    • (2009) J. Am. Coll. Cardiol. , vol.54 , pp. 460-467
    • Opotowsky, A.R.1    Siddiqi, O.K.2    Webb, G.D.3
  • 7
    • 33645473405 scopus 로고    scopus 로고
    • Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation
    • van Beynum, I.M., Kapusta, L., den Heijer, M., Vermeulen, S.H., Kouwenberg, M., Daniels, O. and Blom, H.J. (2006) Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation. Eur. Heart J., 27, 981-987.
    • (2006) Eur. Heart J. , vol.27 , pp. 981-987
    • van Beynum, I.M.1    Kapusta, L.2    den Heijer, M.3    Vermeulen, S.H.4    Kouwenberg, M.5    Daniels, O.6    Blom, H.J.7
  • 8
    • 77955152092 scopus 로고    scopus 로고
    • Maternal folate-related gene environment interactions and congenital heart defects
    • Hobbs, C.A., Cleves, M.A., Karim, M.A., Zhao, W. and MacLeod, S.L. (2010) Maternal folate-related gene environment interactions and congenital heart defects. Obstet. Gynecol., 116, 316-322.
    • (2010) Obstet. Gynecol. , vol.116 , pp. 316-322
    • Hobbs, C.A.1    Cleves, M.A.2    Karim, M.A.3    Zhao, W.4    MacLeod, S.L.5
  • 9
    • 29544453082 scopus 로고    scopus 로고
    • Congenital heart defects, maternal homocysteine, smoking, and the 677C>T polymorphism in the methylenetetrahydrofolate reductase gene: evaluating gene-environment interactions
    • Hobbs, C.A., James, S.J., Jernigan, S., Melnyk, S., Lu, Y., Malik, S. and Cleves, M.A. (2006) Congenital heart defects, maternal homocysteine, smoking, and the 677C>T polymorphism in the methylenetetrahydrofolate reductase gene: evaluating gene-environment interactions. Am. J. Obstet. Gynecol., 194, 218-224.
    • (2006) Am. J. Obstet. Gynecol. , vol.194 , pp. 218-224
    • Hobbs, C.A.1    James, S.J.2    Jernigan, S.3    Melnyk, S.4    Lu, Y.5    Malik, S.6    Cleves, M.A.7
  • 15
    • 84891879501 scopus 로고    scopus 로고
    • The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease
    • Warburton, D., Ronemus, M., Kline, J., Jobanputra, V., Williams, I., Anyane-Yeboa, K., Chung, W., Yu, L., Wong,N., Awad, D. et al. (2014) The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease. Hum. Genet., 133, 11-27.
    • (2014) Hum. Genet. , vol.133 , pp. 11-27
    • Warburton, D.1    Ronemus, M.2    Kline, J.3    Jobanputra, V.4    Williams, I.5    Anyane-Yeboa, K.6    Chung, W.7    Yu, L.8    Wong, N.9    Awad, D.10
  • 17
    • 20144388158 scopus 로고    scopus 로고
    • Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and heritability
    • McBride, K.L., Pignatelli, R., Lewin, M., Ho, T., Fernbach, S., Menesses, A., Lam, W., Leal, S.M., Kaplan, N., Schliekelman, P. et al. (2005) Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and heritability. Am. J. Med. Genet. A, 134A, 180-186.
    • (2005) Am. J. Med. Genet. A , vol.134 A , pp. 180-186
    • McBride, K.L.1    Pignatelli, R.2    Lewin, M.3    Ho, T.4    Fernbach, S.5    Menesses, A.6    Lam, W.7    Leal, S.M.8    Kaplan, N.9    Schliekelman, P.10
  • 19
    • 61949160625 scopus 로고    scopus 로고
    • Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve
    • Hinton, R.B., Martin, L.J., Rame-Gowda, S., Tabangin, M.E., Cripe, L.H. and Benson, D.W. (2009) Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve. J. Am. Coll. Cardiol., 53, 1065-1071.
    • (2009) J. Am. Coll. Cardiol. , vol.53 , pp. 1065-1071
    • Hinton, R.B.1    Martin, L.J.2    Rame-Gowda, S.3    Tabangin, M.E.4    Cripe, L.H.5    Benson, D.W.6
  • 21
    • 77958111908 scopus 로고    scopus 로고
    • Maternal alcohol consumption, alcohol metabolism genes, and the risk of oral clefts: a population-based case-control study in Norway, 1996-2001
    • Boyles, A.L., DeRoo, L.A., Lie, R.T., Taylor, J.A., Jugessur, A., Murray, J.C. and Wilcox, A.J. (2010) Maternal alcohol consumption, alcohol metabolism genes, and the risk of oral clefts: a population-based case-control study in Norway, 1996-2001. Am. J. Epidemiol., 172, 924-931.
    • (2010) Am. J. Epidemiol. , vol.172 , pp. 924-931
    • Boyles, A.L.1    DeRoo, L.A.2    Lie, R.T.3    Taylor, J.A.4    Jugessur, A.5    Murray, J.C.6    Wilcox, A.J.7
  • 24
    • 84872501737 scopus 로고    scopus 로고
    • Association between MTR A2756G and MTRR A66G polymorphisms and maternal risk for neural tube defects: a meta-analysis
    • Ouyang, S., Li, Y., Liu, Z., Chang, H. and Wu, J. (2013) Association between MTR A2756G and MTRR A66G polymorphisms and maternal risk for neural tube defects: a meta-analysis. Gene, 515, 308-312.
    • (2013) Gene , vol.515 , pp. 308-312
    • Ouyang, S.1    Li, Y.2    Liu, Z.3    Chang, H.4    Wu, J.5
  • 25
    • 45749089363 scopus 로고    scopus 로고
    • Maternal genotype effects can alias case genotype effects in case-control studies
    • Buyske, S. (2008) Maternal genotype effects can alias case genotype effects in case-control studies. Eur. J. Hum. Genet., 16, 783-785.
    • (2008) Eur. J. Hum. Genet. , vol.16 , pp. 783-785
    • Buyske, S.1
  • 26
    • 0032211487 scopus 로고    scopus 로고
    • Distinguishing the effects of maternal and offspring genes through studies of "case-parent triads"
    • Wilcox, A.J., Weinberg, C.R. and Lie, R.T. (1998) Distinguishing the effects of maternal and offspring genes through studies of "case-parent triads". Am. J. Epidemiol., 148, 893-901.
    • (1998) Am. J. Epidemiol. , vol.148 , pp. 893-901
    • Wilcox, A.J.1    Weinberg, C.R.2    Lie, R.T.3
  • 27
    • 84863987483 scopus 로고    scopus 로고
    • INRICH: interval-based enrichment analysis for genome-wide association studies
    • Lee, P.H., O'Dushlaine, C., Thomas, B. and Purcell, S.M. (2012) INRICH: interval-based enrichment analysis for genome-wide association studies. Bioinformatics, 28, 1797-1799.
    • (2012) Bioinformatics , vol.28 , pp. 1797-1799
    • Lee, P.H.1    O'Dushlaine, C.2    Thomas, B.3    Purcell, S.M.4
  • 28
    • 34548026082 scopus 로고    scopus 로고
    • Identification of a novel human zinc finger gene, ZNF438, with transcription inhibition activity
    • Zhong, Z., Wan, B., Qiu, Y., Ni, J., Tang, W., Chen, X., Yang, Y., Shen, S., Wang, Y., Bai, M. et al. (2007) Identification of a novel human zinc finger gene, ZNF438, with transcription inhibition activity. J. Biochem. Mol. Biol., 40, 517-524.
    • (2007) J. Biochem. Mol. Biol. , vol.40 , pp. 517-524
    • Zhong, Z.1    Wan, B.2    Qiu, Y.3    Ni, J.4    Tang, W.5    Chen, X.6    Yang, Y.7    Shen, S.8    Wang, Y.9    Bai, M.10
  • 29
    • 27144469476 scopus 로고    scopus 로고
    • Molecular cloning and characterization of three novel lysozyme-like genes, predominantly expressed in the male reproductive system of humans, belonging to the c-type lysozyme/alpha-lactalbumin family
    • Zhang, K., Gao, R., Zhang, H., Cai, X., Shen, C., Wu, C., Zhao, S. and Yu, L. (2005) Molecular cloning and characterization of three novel lysozyme-like genes, predominantly expressed in the male reproductive system of humans, belonging to the c-type lysozyme/alpha-lactalbumin family. Biol. Reprod., 73, 1064-1071.
    • (2005) Biol. Reprod. , vol.73 , pp. 1064-1071
    • Zhang, K.1    Gao, R.2    Zhang, H.3    Cai, X.4    Shen, C.5    Wu, C.6    Zhao, S.7    Yu, L.8
  • 30
    • 10744229696 scopus 로고    scopus 로고
    • Cloning and sequence analysis of the humanc DNA encoding the synaptoporin (delta), a highly conservative synaptic vesicle protein
    • Dai, J., Ji, C., Gu, S., Wu, Q., Wang, L., Xu, J., Zeng, L., Ye, X., Yin, G., Xie, Y. et al. (2003) Cloning and sequence analysis of the humanc DNA encoding the synaptoporin (delta), a highly conservative synaptic vesicle protein. Mol. Biol. Rep., 30, 185-191.
    • (2003) Mol. Biol. Rep. , vol.30 , pp. 185-191
    • Dai, J.1    Ji, C.2    Gu, S.3    Wu, Q.4    Wang, L.5    Xu, J.6    Zeng, L.7    Ye, X.8    Yin, G.9    Xie, Y.10
  • 32
    • 33746926015 scopus 로고    scopus 로고
    • Forkhead transcription factors, Foxc1 and Foxc2, are required for the morphogenesis of the cardiac outflow tract
    • Seo, S. and Kume, T. (2006) Forkhead transcription factors, Foxc1 and Foxc2, are required for the morphogenesis of the cardiac outflow tract. Dev. Biol., 296, 421-436.
    • (2006) Dev. Biol. , vol.296 , pp. 421-436
    • Seo, S.1    Kume, T.2
  • 33
    • 74249115602 scopus 로고    scopus 로고
    • Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature
    • Shaw-Smith, C. (2010) Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. Eur. J. Med. Genet., 53, 6-13.
    • (2010) Eur. J. Med. Genet. , vol.53 , pp. 6-13
    • Shaw-Smith, C.1
  • 34
    • 66449113643 scopus 로고    scopus 로고
    • Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
    • Stankiewicz, P., Sen, P., Bhatt, S.S., Storer, M., Xia, Z., Bejjani, B.A., Ou, Z., Wiszniewska, J., Driscoll, D.J., Maisenbacher, M.K. et al. (2009) Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am. J. Hum. Genet., 84, 780-791.
    • (2009) Am. J. Hum. Genet. , vol.84 , pp. 780-791
    • Stankiewicz, P.1    Sen, P.2    Bhatt, S.S.3    Storer, M.4    Xia, Z.5    Bejjani, B.A.6    Ou, Z.7    Wiszniewska, J.8    Driscoll, D.J.9    Maisenbacher, M.K.10
  • 36
    • 84858770543 scopus 로고    scopus 로고
    • Transcription factor pathways and congenital heart disease
    • McCulley, D.J. and Black, B.L. (2012) Transcription factor pathways and congenital heart disease. Curr. Top. Dev. Biol., 100, 253-277.
    • (2012) Curr. Top. Dev. Biol. , vol.100 , pp. 253-277
    • McCulley, D.J.1    Black, B.L.2
  • 43
    • 84879694320 scopus 로고    scopus 로고
    • A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations
    • Hu,Z., Shi,Y., Mo,X., Xu, J., Zhao,B., Lin,Y., Yang, S., Xu,Z., Dai, J., Pan, S. et al. (2013) A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. Nat. Genet., 45, 818-821.
    • (2013) Nat. Genet. , vol.45 , pp. 818-821
    • Hu, Z.1    Shi, Y.2    Mo, X.3    Xu, J.4    Zhao, B.5    Lin, Y.6    Yang, S.7    Xu, Z.8    Dai, J.9    Pan, S.10
  • 44
    • 84879687374 scopus 로고    scopus 로고
    • Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16
    • Cordell, H.J., Bentham, J., Topf, A., Zelenika, D., Heath, S., Mamasoula, C., Cosgrove, C., Blue, G., Granados-Riveron, J., Setchfield, K. et al. (2013) Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nat. Genet., 45, 822-824.
    • (2013) Nat. Genet. , vol.45 , pp. 822-824
    • Cordell, H.J.1    Bentham, J.2    Topf, A.3    Zelenika, D.4    Heath, S.5    Mamasoula, C.6    Cosgrove, C.7    Blue, G.8    Granados-Riveron, J.9    Setchfield, K.10
  • 46
    • 37549064336 scopus 로고    scopus 로고
    • MACH 1.0: rapid haplotype reconstruction and missing genotype inference
    • S79
    • Li, Y. and Abecasis, G. (2006) MACH 1.0: rapid haplotype reconstruction and missing genotype inference. Am. J. Hum. Genet., S79, 2290.
    • (2006) Am. J. Hum. Genet. , pp. 2290
    • Li, Y.1    Abecasis, G.2
  • 47
    • 65449139505 scopus 로고    scopus 로고
    • Importance of gene-environment interactions in the etiology of selected birth defects
    • Zhu, H., Kartiko, S. and Finnell, R.H. (2009) Importance of gene-environment interactions in the etiology of selected birth defects. Clin. Genet., 75, 409-423.
    • (2009) Clin. Genet. , vol.75 , pp. 409-423
    • Zhu, H.1    Kartiko, S.2    Finnell, R.H.3
  • 48
    • 0031949066 scopus 로고    scopus 로고
    • A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting
    • Weinberg, C.R., Wilcox, A.J. and Lie, R.T. (1998) A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting. Am. J. Hum. Genet., 62, 969-978.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 969-978
    • Weinberg, C.R.1    Wilcox, A.J.2    Lie, R.T.3
  • 49
    • 79954994407 scopus 로고    scopus 로고
    • MI-GWAS: a SAS platform for the analysis of inherited and maternal genetic effects in genome-wide association studies using log-linear models
    • Agopian, A.J. and Mitchell, L.E. (2011) MI-GWAS: a SAS platform for the analysis of inherited and maternal genetic effects in genome-wide association studies using log-linear models. BMC Bioinformatics, 12, 117.
    • (2011) BMC Bioinformatics , vol.12 , pp. 117
    • Agopian, A.J.1    Mitchell, L.E.2
  • 50
    • 0036844005 scopus 로고    scopus 로고
    • Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida
    • Doolin, M.T., Barbaux, S., McDonnell, M., Hoess, K., Whitehead, A.S. and Mitchell, L.E. (2002) Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. Am. J. Hum. Genet., 71, 1222-1226.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 1222-1226
    • Doolin, M.T.1    Barbaux, S.2    McDonnell, M.3    Hoess, K.4    Whitehead, A.S.5    Mitchell, L.E.6
  • 54
    • 79955956345 scopus 로고    scopus 로고
    • New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate
    • Martinelli, M., Masiero, E., Carinci, F., Morselli, P.G., Pezzetti, F. and Scapoli, L. (2011) New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate. Eur. J. Oral Sci., 119, 193-197.
    • (2011) Eur. J. Oral Sci. , vol.119 , pp. 193-197
    • Martinelli, M.1    Masiero, E.2    Carinci, F.3    Morselli, P.G.4    Pezzetti, F.5    Scapoli, L.6
  • 55
    • 84867950931 scopus 로고    scopus 로고
    • Maternal variation in EPHX1, a xenobiotic metabolism gene, is associated with childhood medulloblastoma: an exploratory case-parent triad study
    • Lupo, P.J., Nousome, D., Okcu, M.F., Chintagumpala, M. and Scheurer, M.E. (2012) Maternal variation in EPHX1, a xenobiotic metabolism gene, is associated with childhood medulloblastoma: an exploratory case-parent triad study. Pediatr. Hematol. Oncol., 29, 679-685.
    • (2012) Pediatr. Hematol. Oncol. , vol.29 , pp. 679-685
    • Lupo, P.J.1    Nousome, D.2    Okcu, M.F.3    Chintagumpala, M.4    Scheurer, M.E.5
  • 57
    • 0033362166 scopus 로고    scopus 로고
    • Allowing for missing parents in genetic studies of case-parent triads
    • Weinberg, C.R. (1999) Allowing for missing parents in genetic studies of case-parent triads. Am. J. Hum. Genet., 64, 1186-1193.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1186-1193
    • Weinberg, C.R.1
  • 58
    • 26444557985 scopus 로고    scopus 로고
    • Evaluation of offspring and maternal genetic effects on disease risk using a family-based approach: the "pent" design
    • Mitchell, L.E. and Weinberg, C.R. (2005) Evaluation of offspring and maternal genetic effects on disease risk using a family-based approach: the "pent" design. Am. J. Epidemiol., 162, 676-685.
    • (2005) Am. J. Epidemiol. , vol.162 , pp. 676-685
    • Mitchell, L.E.1    Weinberg, C.R.2
  • 59
    • 0015091972 scopus 로고
    • Frequency in relatives for an all-or-none trait
    • James, J.W. (1971) Frequency in relatives for an all-or-none trait. Ann. Hum. Genet., 35, 47-49.
    • (1971) Ann. Hum. Genet. , vol.35 , pp. 47-49
    • James, J.W.1
  • 60
    • 84895510920 scopus 로고    scopus 로고
    • Functional annotation of noncoding sequence variants
    • Ritchie, G.R., Dunham, I., Zeggini, E. and Flicek, P. (2014) Functional annotation of noncoding sequence variants. Nat. Methods, 11, 294-296.
    • (2014) Nat. Methods , vol.11 , pp. 294-296
    • Ritchie, G.R.1    Dunham, I.2    Zeggini, E.3    Flicek, P.4


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