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Volumn 94, Issue 1, 2012, Pages 42-46

Polymorphic variants at 10q25.3 and 17q22 loci and the risk of non-syndromic cleft lip and palate in the polish population

Author keywords

10q25.3; 17q22; CLP; GWAS; Polymorphism; Risk factor

Indexed keywords

ARTICLE; CHROMOSOME 10Q; CHROMOSOME 17Q; CHROMOSOME 1P; CHROMOSOME 20Q; CLEFT LIP PALATE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84855723739     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.22862     Document Type: Article
Times cited : (26)

References (35)
  • 1
    • 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, 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
  • 2
    • 0033386714 scopus 로고    scopus 로고
    • The homeodomain protein vax1 is required for axon guidance and major tract formation in the developing forebrain
    • Bertuzzi S, Hindges R, Mui SH, O'Leary DD, Lemke G. 1999. The homeodomain protein vax1 is required for axon guidance and major tract formation in the developing forebrain. Genes Dev 13: 3092-3105.
    • (1999) Genes Dev , vol.13 , pp. 3092-3105
    • Bertuzzi, S.1    Hindges, R.2    Mui, S.H.3    O'Leary, D.D.4    Lemke, G.5
  • 3
    • 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, 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
  • 4
    • 77950832247 scopus 로고    scopus 로고
    • Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate
    • Blanton SH, Burt A, Stal S, Mulliken JB, Garcia E, Hecht JT. 2010. Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate. Birth Defects Res A Clin Mol Teratol 88: 256-259.
    • (2010) Birth Defects Res A Clin Mol Teratol , vol.88 , pp. 256-259
    • Blanton, S.H.1    Burt, A.2    Stal, S.3    Mulliken, J.B.4    Garcia, E.5    Hecht, J.T.6
  • 5
    • 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
  • 6
    • 66349118327 scopus 로고    scopus 로고
    • Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004
    • Genisca AE, Frías JL, Broussard CS, et al. 2009. Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004. Am J Med Genet A 149A: 1149-1158.
    • (2009) Am J Med Genet A , vol.149 , pp. 1149-1158
    • Genisca, A.E.1    Frías, J.L.2    Broussard, C.S.3
  • 7
    • 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, 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
  • 8
    • 0033386715 scopus 로고    scopus 로고
    • Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system
    • Hallonet M, Hollemann T, Pieler T, Gruss P. 1999. Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system. Genes Dev 13: 3106-3114.
    • (1999) Genes Dev , vol.13 , pp. 3106-3114
    • Hallonet, M.1    Hollemann, T.2    Pieler, T.3    Gruss, P.4
  • 10
    • 77957320336 scopus 로고    scopus 로고
    • Modulation of BMP signaling by Noggin is required for the maintenance of palatal epithelial integrity during palatogenesis
    • He F, Xiong W, Wang Y, et al. 2010. Modulation of BMP signaling by Noggin is required for the maintenance of palatal epithelial integrity during palatogenesis. Dev Biol 347: 109-121.
    • (2010) Dev Biol , vol.347 , pp. 109-121
    • He, F.1    Xiong, W.2    Wang, Y.3
  • 11
    • 13144306071 scopus 로고    scopus 로고
    • Genome-wide association studies for common diseases and complex traits
    • Hirschhorn JN, Daly MJ. 2005. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 6: 95-108.
    • (2005) Nat Rev Genet , vol.6 , pp. 95-108
    • Hirschhorn, J.N.1    Daly, M.J.2
  • 12
    • 0024267719 scopus 로고
    • Etiology of facial clefts: prospective evaluation of 428 patients
    • Jones MC. 1988. Etiology of facial clefts: prospective evaluation of 428 patients. Cleft Palate J 25: 16-20.
    • (1988) Cleft Palate J , vol.25 , pp. 16-20
    • Jones, M.C.1
  • 13
    • 70349097584 scopus 로고    scopus 로고
    • The genetics of isolated orofacial clefts: from genotypes to subphenotypes
    • Jugessur A, Farlie PG, Kilpatrick N. 2009. The genetics of isolated orofacial clefts: from genotypes to subphenotypes. Oral Dis 15: 437-453.
    • (2009) Oral Dis , vol.15 , pp. 437-453
    • Jugessur, A.1    Farlie, P.G.2    Kilpatrick, N.3
  • 14
    • 79951503871 scopus 로고    scopus 로고
    • Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: a subphenotype analysis using two population-based studies of orofacial clefts in Scandinavia
    • Jugessur A, Shi M, Gjessing HK, et al. 2011. Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: a subphenotype analysis using two population-based studies of orofacial clefts in Scandinavia. Birth Defects Res A Clin Mol Teratol 91: 85-92.
    • (2011) Birth Defects Res A Clin Mol Teratol , vol.91 , pp. 85-92
    • Jugessur, A.1    Shi, M.2    Gjessing, H.K.3
  • 16
    • 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, 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
  • 17
    • 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, 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
  • 18
    • 77954711950 scopus 로고    scopus 로고
    • Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the Polish population
    • Mostowska A, Hozyasz KK, Wojcicki P, Biedziak B, Paradowska P, Jagodzinski PP. 2010. Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the Polish population. Birth Defects Res A Clin Mol Teratol 88: 538-545.
    • (2010) Birth Defects Res A Clin Mol Teratol , vol.88 , pp. 538-545
    • Mostowska, A.1    Hozyasz, K.K.2    Wojcicki, P.3    Biedziak, B.4    Paradowska, P.5    Jagodzinski, P.P.6
  • 19
    • 18844396117 scopus 로고    scopus 로고
    • Vax genes ventralize the embryonic eye
    • Mui SH, Kim JW, Lemke G, Bertuzzi S. 2005. Vax genes ventralize the embryonic eye. Genes Dev 19: 1249-1259.
    • (2005) Genes Dev , vol.19 , pp. 1249-1259
    • Mui, S.H.1    Kim, J.W.2    Lemke, G.3    Bertuzzi, S.4
  • 20
    • 0036556368 scopus 로고    scopus 로고
    • Gene/environment causes of cleft lip and/or palate
    • Murray JC. 2002. Gene/environment causes of cleft lip and/or palate. Clin Genet 61: 248-256.
    • (2002) Clin Genet , vol.61 , pp. 248-256
    • Murray, J.C.1
  • 21
    • 70449348563 scopus 로고    scopus 로고
    • Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients
    • Nikopensius T, Ambrozaityte L, Ludwig KU, et al. 2009. Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients. Am J Med Genet A 149A: 2551-2553.
    • (2009) Am J Med Genet A , vol.149 , pp. 2551-2553
    • Nikopensius, T.1    Ambrozaityte, L.2    Ludwig, K.U.3
  • 22
    • 79952608836 scopus 로고    scopus 로고
    • Replication of two novel susceptibility loci for non-syndromic orofacial clefts in a Chinese population
    • Pan Y, Ma J, Zhang W, et al. 2011. Replication of two novel susceptibility loci for non-syndromic orofacial clefts in a Chinese population. Oral Dis 17: 304-308.
    • (2011) Oral Dis , vol.17 , pp. 304-308
    • Pan, Y.1    Ma, J.2    Zhang, W.3
  • 23
    • 79960841386 scopus 로고    scopus 로고
    • A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD)
    • Potti TA, Petty EM, Lesperance MM. 2011. A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD). Hum Mutat 32: 877-886.
    • (2011) Hum Mutat , vol.32 , pp. 877-886
    • Potti, T.A.1    Petty, E.M.2    Lesperance, M.M.3
  • 24
    • 55049105999 scopus 로고    scopus 로고
    • Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip
    • Rahimov F, Marazita ML, Visel A, et al. 2008. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet 40: 1341-1347.
    • (2008) Nat Genet , vol.40 , pp. 1341-1347
    • Rahimov, F.1    Marazita, M.L.2    Visel, A.3
  • 25
    • 29144536192 scopus 로고    scopus 로고
    • Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10
    • Rampersaud E, Bassuk AG, Enterline DS, et al. 2005. Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10. J Med Genet 42: 940-946.
    • (2005) J Med Genet , vol.42 , pp. 940-946
    • Rampersaud, E.1    Bassuk, A.G.2    Enterline, D.S.3
  • 26
    • 67649862248 scopus 로고    scopus 로고
    • Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence
    • Richardson RJ, Dixon J, Jiang R, Dixon MJ. 2009. Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence. Hum Mol Genet 18: 2632-2642.
    • (2009) Hum Mol Genet , vol.18 , pp. 2632-2642
    • Richardson, R.J.1    Dixon, J.2    Jiang, R.3    Dixon, M.J.4
  • 27
    • 33750441851 scopus 로고    scopus 로고
    • Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch
    • Richardson RJ, Dixon J, Malhotra S, et al. 2006. Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch. Nat Genet 38: 1329-1334.
    • (2006) Nat Genet , vol.38 , pp. 1329-1334
    • Richardson, R.J.1    Dixon, J.2    Malhotra, S.3
  • 28
    • 77954707645 scopus 로고    scopus 로고
    • Genetic risk factors for nonsyndromic cleft lip with or without cleft palatein a Mesoamerican population: evidence for IRF6 and variants at 8q24 and 10q25
    • Rojas-Martinez A, Reutter H, Chacon-Camacho O, et al. 2010. Genetic risk factors for nonsyndromic cleft lip with or without cleft palatein a Mesoamerican population: evidence for IRF6 and variants at 8q24 and 10q25. Birth Defects Res A Clin Mol Teratol 88: 535-537.
    • (2010) Birth Defects Res A Clin Mol Teratol , vol.88 , pp. 535-537
    • Rojas-Martinez, A.1    Reutter, H.2    Chacon-Camacho, O.3
  • 29
    • 79951521421 scopus 로고    scopus 로고
    • Progress and promise of genome-wide association studies for human complex trait genetics
    • Stranger BE, Stahl EA, Raj T. 2011. Progress and promise of genome-wide association studies for human complex trait genetics. Genetics 187: 367-383.
    • (2011) Genetics , vol.187 , pp. 367-383
    • Stranger, B.E.1    Stahl, E.A.2    Raj, T.3
  • 30
    • 61849147400 scopus 로고    scopus 로고
    • Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip
    • Suzuki S, Marazita ML, Cooper ME, 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
  • 31
    • 33749571128 scopus 로고    scopus 로고
    • Shootin1: a protein involved in the organization of an asymmetric signal for neuronal polarization
    • Toriyama M, Shimada T, Kim KB, et al. 2006. Shootin1: a protein involved in the organization of an asymmetric signal for neuronal polarization. J Cell Biol 175: 147-157.
    • (2006) J Cell Biol , vol.175 , pp. 147-157
    • Toriyama, M.1    Shimada, T.2    Kim, K.B.3
  • 32
    • 79956209252 scopus 로고    scopus 로고
    • Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate
    • Yuan Q, Blanton SH, Hecht JT. 2011. Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate. Am J Med Genet A 155A: 1469-1471.
    • (2011) Am J Med Genet A , vol.155 , pp. 1469-1471
    • Yuan, Q.1    Blanton, S.H.2    Hecht, J.T.3
  • 33
    • 0036714198 scopus 로고    scopus 로고
    • Rescue of cleft palate in Msx1-deficient mice by transgenic Bmp4 reveals a network of BMP and Shh signaling in the regulation of mammalian palatogenesis
    • Zhang Z, Song Y, Zhao X, Zhang X, Fermin C, Chen Y. 2002. Rescue of cleft palate in Msx1-deficient mice by transgenic Bmp4 reveals a network of BMP and Shh signaling in the regulation of mammalian palatogenesis. Development 129: 4135-4146.
    • (2002) Development , vol.129 , pp. 4135-4146
    • Zhang, Z.1    Song, Y.2    Zhao, X.3    Zhang, X.4    Fermin, C.5    Chen, Y.6
  • 34
    • 73649092717 scopus 로고    scopus 로고
    • Sonic hedgehog is involved in formation of the ventral optic cup by limiting Bmp4 expression to the dorsal domain
    • Zhao L, Saitsu H, Sun X, Shiota K, Ishibashi M. 2010. Sonic hedgehog is involved in formation of the ventral optic cup by limiting Bmp4 expression to the dorsal domain. Mech Dev 127: 62-72.
    • (2010) Mech Dev , vol.127 , pp. 62-72
    • Zhao, L.1    Saitsu, H.2    Sun, X.3    Shiota, K.4    Ishibashi, M.5
  • 35
    • 0030598829 scopus 로고    scopus 로고
    • The Spemann organizer signal noggin binds and inactivates bone morphogenetic protein 4
    • Zimmerman LB, De Jesús-Escobar JM, Harland RM. 1996. The Spemann organizer signal noggin binds and inactivates bone morphogenetic protein 4. Cell 86: 599-606.
    • (1996) Cell , vol.86 , pp. 599-606
    • Zimmerman, L.B.1    De Jesús-Escobar, J.M.2    Harland, R.M.3


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