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Volumn 9, Issue 10, 2014, Pages

Joint testing of genotypic and gene-environment interaction identified novel association for BMP4 with non-syndromic CL/P in an asian population using data from an International Cleft Consortium

(14)  Chen, Qianqian a,b   Wang, Hong a,b   Schwender, Holger c   Zhang, Tianxiao d   Hetmanski, Jacqueline B e   Chou, Yah Huei Wu f   Ye, Xiaoqian g   Yeow, Vincent h   Chong, Samuel S i   Zhang, Bo j   Jabs, Ethylin Wang g,k   Parker, Margaret M e   Scott, Alan F k   Beaty, Terri H e  


Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 4; TOBACCO SMOKE; BMP4 PROTEIN, HUMAN; PASSIVE SMOKING;

EID: 84907855742     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0109038     Document Type: Article
Times cited : (16)

References (44)
  • 1
    • 0242670655 scopus 로고    scopus 로고
    • Epidemiology of oral clefts: An international perspective
    • Wyszynski DF, editor. Oxford: Oxford University Press
    • Mossey P, Little J (2002) Epidemiology of oral clefts: an international perspective. In: Wyszynski DF, editor. Cleft lip and palate. Oxford: Oxford University Press. pp. 127-158.
    • (2002) Cleft Lip and Palate , pp. 127-158
    • Mossey, P.1    Little, J.2
  • 2
    • 79951800135 scopus 로고    scopus 로고
    • Cleft lip and palate: Understanding genetic and environmental influences
    • Dixon MJ, Marazita ML, Beaty TH, Murray JC (2011) Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 12: 167-178.
    • (2011) Nat Rev Genet , vol.12 , pp. 167-178
    • Dixon, M.J.1    Marazita, M.L.2    Beaty, T.H.3    Murray, J.C.4
  • 3
    • 84872450566 scopus 로고    scopus 로고
    • The evolution of human genetic studies of cleft lip and cleft palate
    • Marazita ML (2012) The evolution of human genetic studies of cleft lip and cleft palate. Annu Rev Genomics Hum Genet 13: 263-283.
    • (2012) Annu Rev Genomics Hum Genet , vol.13 , pp. 263-283
    • Marazita, M.L.1
  • 4
    • 84879499249 scopus 로고    scopus 로고
    • Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study
    • Beaty TH, Taub MA, Scott AF, Murray JC, Marazita ML, et al. (2013) Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study. Hum Genet 132: 771-781.
    • (2013) Hum Genet , vol.132 , pp. 771-781
    • Beaty, T.H.1    Taub, M.A.2    Scott, A.F.3    Murray, J.C.4    Marazita, M.L.5
  • 5
    • 84872716109 scopus 로고    scopus 로고
    • The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate
    • Wang H, Zhang T, Wu T, Hetmanski JB, Ruczinski I, et al. (2013) The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate. Cleft Palate Craniofac J 50: 96-103.
    • (2013) Cleft Palate Craniofac J , vol.50 , pp. 96-103
    • Wang, H.1    Zhang, T.2    Wu, T.3    Hetmanski, J.B.4    Ruczinski, I.5
  • 6
    • 63449105241 scopus 로고    scopus 로고
    • Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
    • Birnbaum S, Ludwig KU, Reutter H, Herms S, Steffens M, et al. (2009) Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet 41: 473-477.
    • (2009) Nat Genet , vol.41 , pp. 473-477
    • Birnbaum, S.1    Ludwig, K.U.2    Reutter, H.3    Herms, S.4    Steffens, M.5
  • 7
    • 73349086542 scopus 로고    scopus 로고
    • Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate
    • Mangold E, Ludwig KU, Birnbaum S, Baluardo C, Ferrian M, et al. (2010) Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet 42: 24-26.
    • (2010) Nat Genet , vol.42 , pp. 24-26
    • Mangold, E.1    Ludwig, K.U.2    Birnbaum, S.3    Baluardo, C.4    Ferrian, M.5
  • 8
    • 77952886672 scopus 로고    scopus 로고
    • A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
    • Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, et al. (2010) A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet 42: 525-529.
    • (2010) Nat Genet , vol.42 , pp. 525-529
    • Beaty, T.H.1    Murray, J.C.2    Marazita, M.L.3    Munger, R.G.4    Ruczinski, I.5
  • 9
    • 80655144881 scopus 로고    scopus 로고
    • Genetic studies in the nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders
    • Butali A, Mossey PA, Adeyemo WL, Jezewski PA, Onwuamah CK, et al. (2011) Genetic studies in the nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders. Cleft Palate Craniofac J 48: 646-653.
    • (2011) Cleft Palate Craniofac J , vol.48 , pp. 646-653
    • Butali, A.1    Mossey, P.A.2    Adeyemo, W.L.3    Jezewski, P.A.4    Onwuamah, C.K.5
  • 10
  • 11
    • 84869864009 scopus 로고    scopus 로고
    • Further evidence of association of the ABCA4 gene with cleft lip/palate
    • Fontoura C, Silva RM, Granjeiro JM, Letra A (2012) Further evidence of association of the ABCA4 gene with cleft lip/palate. Eur J Oral Sci 120: 553-557.
    • (2012) Eur J Oral Sci , vol.120 , pp. 553-557
    • Fontoura, C.1    Silva, R.M.2    Granjeiro, J.M.3    Letra, A.4
  • 12
    • 84865655961 scopus 로고    scopus 로고
    • Association of candidate genes with nonsyndromic clefts in Honduran and Colombian populations
    • Lennon CJ, Birkeland AC, Nunez JA, Su GH, Lanzano P, et al. (2012) Association of candidate genes with nonsyndromic clefts in Honduran and Colombian populations. Laryngoscope 122: 2082-2087.
    • (2012) Laryngoscope , vol.122 , pp. 2082-2087
    • Lennon, C.J.1    Birkeland, A.C.2    Nunez, J.A.3    Su, G.H.4    Lanzano, P.5
  • 13
    • 84865685465 scopus 로고    scopus 로고
    • Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
    • Ludwig KU, Mangold E, Herms S, Nowak S, Reutter H, et al. (2012) Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat Genet 44: 968-971.
    • (2012) Nat Genet , vol.44 , pp. 968-971
    • Ludwig, K.U.1    Mangold, E.2    Herms, S.3    Nowak, S.4    Reutter, H.5
  • 14
    • 80051808373 scopus 로고    scopus 로고
    • Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate
    • Beaty TH, Ruczinski I, Murray JC, Marazita ML, Munger RG, et al. (2011) Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. Genet Epidemiol 35: 469-478.
    • (2011) Genet Epidemiol , vol.35 , pp. 469-478
    • Beaty, T.H.1    Ruczinski, I.2    Murray, J.C.3    Marazita, M.L.4    Munger, R.G.5
  • 15
    • 84872034012 scopus 로고    scopus 로고
    • Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function
    • Hancock DB, Artigas MS, Gharib SA, Henry A, Manichaikul A, et al. (2012) Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. PLoS Genet 8: e1003098.
    • (2012) PLoS Genet , vol.8 , pp. e1003098
    • Hancock, D.B.1    Artigas, M.S.2    Gharib, S.A.3    Henry, A.4    Manichaikul, A.5
  • 16
    • 77949772292 scopus 로고    scopus 로고
    • Gene - environment-wide association studies: Emerging approaches
    • Thomas D (2010) Gene - environment-wide association studies: emerging approaches. Nat Rev Genet 11: 259-272.
    • (2010) Nat Rev Genet , vol.11 , pp. 259-272
    • Thomas, D.1
  • 17
    • 0031040450 scopus 로고    scopus 로고
    • Ectopic application of recombinant BMP-2 and BMP-4 can change patterning of developing chick facial primordia
    • Barlow AJ, Francis-West PH (1997) Ectopic application of recombinant BMP-2 and BMP-4 can change patterning of developing chick facial primordia. Development 124: 391-398.
    • (1997) Development , vol.124 , pp. 391-398
    • Barlow, A.J.1    Francis-West, P.H.2
  • 18
    • 0036798239 scopus 로고    scopus 로고
    • Endogenous bone morphogenetic proteins regulate outgrowth and epithelial survival during avian lip fusion
    • Ashique AM, Fu K, Richman JM (2002) Endogenous bone morphogenetic proteins regulate outgrowth and epithelial survival during avian lip fusion. Development 129: 4647-4660.
    • (2002) Development , vol.129 , pp. 4647-4660
    • Ashique, A.M.1    Fu, K.2    Richman, J.M.3
  • 19
    • 77955279157 scopus 로고    scopus 로고
    • Differential Shh, Bmp and Wnt gene expressions during craniofacial development in mice
    • Paiva KB, Silva-Valenzuela M, Massironi SM, Ko GM, Siqueira FM, et al. (2010) Differential Shh, Bmp and Wnt gene expressions during craniofacial development in mice. Acta Histochem 112: 508-517.
    • (2010) Acta Histochem , vol.112 , pp. 508-517
    • Paiva, K.B.1    Silva-Valenzuela, M.2    Massironi, S.M.3    Ko, G.M.4    Siqueira, F.M.5
  • 20
    • 17244369769 scopus 로고    scopus 로고
    • Distinct functions for Bmp signaling in lip and palate fusion in mice
    • Liu W, Sun X, Braut A, Mishina Y, Behringer RR, et al. (2005) Distinct functions for Bmp signaling in lip and palate fusion in mice. Development 132: 1453-1461.
    • (2005) Development , vol.132 , pp. 1453-1461
    • Liu, W.1    Sun, X.2    Braut, A.3    Mishina, Y.4    Behringer, R.R.5
  • 21
    • 3242672318 scopus 로고    scopus 로고
    • Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35
    • Marazita ML, Murray JC, Lidral AC, Arcos-Burgos M, Cooper ME, et al. (2004) Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet 75: 161-173.
    • (2004) Am J Hum Genet , vol.75 , pp. 161-173
    • Marazita, M.L.1    Murray, J.C.2    Lidral, A.C.3    Arcos-Burgos, M.4    Cooper, M.E.5
  • 22
    • 65549128464 scopus 로고    scopus 로고
    • Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results
    • Marazita ML, Lidral AC, Murray JC, Field LL, Maher BS, et al. (2009) Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results. Hum Hered 68: 151-170.
    • (2009) Hum Hered , vol.68 , pp. 151-170
    • Marazita, M.L.1    Lidral, A.C.2    Murray, J.C.3    Field, L.L.4    Maher, B.S.5
  • 23
    • 61849147400 scopus 로고    scopus 로고
    • Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip
    • Suzuki S, Marazita ML, Cooper ME, Miwa N, Hing A, et al. (2009) Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet 84: 406-411.
    • (2009) Am J Hum Genet , vol.84 , pp. 406-411
    • Suzuki, S.1    Marazita, M.L.2    Cooper, M.E.3    Miwa, N.4    Hing, A.5
  • 24
    • 55949087208 scopus 로고    scopus 로고
    • Association of bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in Chinese children
    • Lin JY, Chen YJ, Huang YL, Tang GP, Zhang L, et al. (2008) Association of bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in Chinese children. DNA Cell Biol 27: 601-605.
    • (2008) DNA Cell Biol , vol.27 , pp. 601-605
    • Lin, J.Y.1    Chen, Y.J.2    Huang, Y.L.3    Tang, G.P.4    Zhang, L.5
  • 26
    • 76249115766 scopus 로고    scopus 로고
    • Association between bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in a chilean population
    • Suazo J, Santos JL, Jara L, Blanco R (2010) Association between bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in a chilean population. DNA Cell Biol 29: 59-64.
    • (2010) DNA Cell Biol , vol.29 , pp. 59-64
    • Suazo, J.1    Santos, J.L.2    Jara, L.3    Blanco, R.4
  • 27
    • 83655182325 scopus 로고    scopus 로고
    • Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population
    • Suazo J, Tapia JC, Santos JL, Castro VG, Colombo A, et al. (2011) Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population. BMC Med Genet 12: 163.
    • (2011) BMC Med Genet , vol.12 , pp. 163
    • Suazo, J.1    Tapia, J.C.2    Santos, J.L.3    Castro, V.G.4    Colombo, A.5
  • 29
    • 84907849606 scopus 로고    scopus 로고
    • Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate
    • Araujo TK, Simioni M, Felix TM, de Souza LT, Fontes MI, et al. (2012) Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate. Plast Surg Int 2012: 247104.
    • (2012) Plast Surg Int , vol.2012 , pp. 247104
    • Araujo, T.K.1    Simioni, M.2    Felix, T.M.3    De Souza, L.T.4    Fontes, M.I.5
  • 30
    • 73949148687 scopus 로고    scopus 로고
    • A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24
    • Grant SF, Wang K, Zhang H, Glaberson W, Annaiah K, et al. (2009) A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. J Pediatr 155: 909-913.
    • (2009) J Pediatr , vol.155 , pp. 909-913
    • Grant, S.F.1    Wang, K.2    Zhang, H.3    Glaberson, W.4    Annaiah, K.5
  • 31
    • 84863399415 scopus 로고    scopus 로고
    • Candidate pathway based analysis for cleft lip with or without cleft palate
    • Zhang TX, Beaty TH, Ruczinski I (2012) Candidate pathway based analysis for cleft lip with or without cleft palate. Stat Appl Genet Mol Biol 11.
    • (2012) Stat Appl Genet Mol Biol , pp. 11
    • Zhang, T.X.1    Beaty, T.H.2    Ruczinski, I.3
  • 32
    • 67651222400 scopus 로고    scopus 로고
    • A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
    • Howie BN, Donnelly P, Marchini J (2009) A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 5: e1000529.
    • (2009) PLoS Genet , vol.5 , pp. e1000529
    • Howie, B.N.1    Donnelly, P.2    Marchini, J.3
  • 33
    • 77956242566 scopus 로고    scopus 로고
    • Quality control and quality assurance in genotypic data for genome-wide association studies
    • Laurie CC, Doheny KF, Mirel DB, Pugh EW, Bierut LJ, et al. (2010) Quality control and quality assurance in genotypic data for genome-wide association studies. Genet Epidemiol 34: 591-602.
    • (2010) Genet Epidemiol , vol.34 , pp. 591-602
    • Laurie, C.C.1    Doheny, K.F.2    Mirel, D.B.3    Pugh, E.W.4    Bierut, L.J.5
  • 34
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 35
    • 0036857260 scopus 로고    scopus 로고
    • Power comparisons for genotypic vs. Allelic TDT methods with>2 alleles
    • author reply 462-454
    • Fallin D, Beaty T, Liang KY, Chen W (2002) "Power comparisons for genotypic vs. allelic TDT methods with>2 alleles". Genet Epidemiol 23: 458-461; author reply 462-454.
    • (2002) Genet Epidemiol , vol.23 , pp. 458-461
    • Fallin, D.1    Beaty, T.2    Liang, K.Y.3    Chen, W.4
  • 36
    • 84866750913 scopus 로고    scopus 로고
    • Rapid testing of SNPs and gene-environment interactions in case-parent trio data based on exact analytic parameter estimation
    • Schwender H, Taub MA, Beaty TH, Marazita ML, Ruczinski I (2012) Rapid testing of SNPs and gene-environment interactions in case-parent trio data based on exact analytic parameter estimation. Biometrics 68: 766-773.
    • (2012) Biometrics , vol.68 , pp. 766-773
    • Schwender, H.1    Taub, M.A.2    Beaty, T.H.3    Marazita, M.L.4    Ruczinski, I.5
  • 37
    • 0032969649 scopus 로고    scopus 로고
    • Likelihoods and TDT for the case-parents design
    • Schaid DJ (1999) Likelihoods and TDT for the case-parents design. Genet Epidemiol 16: 250-260.
    • (1999) Genet Epidemiol , vol.16 , pp. 250-260
    • Schaid, D.J.1
  • 38
    • 57049134665 scopus 로고    scopus 로고
    • Estimation and testing of gene-environment interactions in family-based association studies
    • Cordell HJ (2009) Estimation and testing of gene-environment interactions in family-based association studies. Genomics 93: 5-9.
    • (2009) Genomics , vol.93 , pp. 5-9
    • Cordell, H.J.1
  • 39
    • 0037080655 scopus 로고    scopus 로고
    • Sample size calculations for matched case-control studies of gene-environment interaction
    • Gauderman WJ (2002) Sample size calculations for matched case-control studies of gene-environment interaction. Statistics in Medicine 21: 35-50.
    • (2002) Statistics in Medicine , vol.21 , pp. 35-50
    • Gauderman, W.J.1
  • 40
    • 65549094033 scopus 로고    scopus 로고
    • Genetic determinants of facial clefting: Analysis of 357 candidate genes using two national cleft studies from Scandinavia
    • Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, et al. (2009) Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia. PLoS One 4: e5385.
    • (2009) PLoS One , vol.4 , pp. e5385
    • Jugessur, A.1    Shi, M.2    Gjessing, H.K.3    Lie, R.T.4    Wilcox, A.J.5
  • 41
    • 33846016263 scopus 로고    scopus 로고
    • Orofacial cleft risk is increased with maternal smoking and specific detoxifica-tion- gene variants
    • Shi M, Christensen K, Weinberg CR, Romitti P, Bathum L, et al. (2007) Orofacial cleft risk is increased with maternal smoking and specific detoxifica-tion- gene variants. Am J Hum Genet 80: 76-90.
    • (2007) Am J Hum Genet , vol.80 , pp. 76-90
    • Shi, M.1    Christensen, K.2    Weinberg, C.R.3    Romitti, P.4    Bathum, L.5
  • 44
    • 77955152092 scopus 로고    scopus 로고
    • Maternal folate-related gene environment interactions and congenital heart defects
    • Hobbs CA, Cleves MA, Karim MA, Zhao W, MacLeod SL (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


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