A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population

Journal of Cranio-Maxillofacial Surgery

Volumn 44, Issue 1, 2016, Pages 16-20

  Araujo, Tânia Kawasaki De ^a   Secolin, Rodrigo ^a   Félix, Têmis Maria ^b   Souza, Liliane Todeschini De ^b   Fontes, Marshall Ítalo Barros ^c   Monlleó, Isabella Lopes ^d   Souza, Josiane De ^e   Fett Conte, Agnes Cristina ^f   Ribeiro, Erlane Marques ^g   Xavier, Ana Carolina ^h   Rezende, Adriana Augusto De ⁱ   Simioni, Milena ^a   Ribeiro Dos Santos, Ândrea Kely Campos ^j   Santos, Sidney Emanuel Batista Dos ^j   Gil Da Silva Lopes, Vera Lúcia ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c Rod Eduardo Alves da Silva   (Brazil)

^d FEDERAL UNIVERSITY OF ALAGOAS   (Brazil)

^e Centro de Atendimento Integral Ao Fissurado Labiopalatal (CAIF)   (Brazil)

^f FACULDADE DE MEDICINA DE SÃO JOSÉ DO RIO PRETO   (Brazil)

^g Hospital Infantil Albert Sabin (HIAS)   (Brazil)

^h Center for Research and Rehabilitation of Lip and Palate Lesions (CRRLPL)   (Brazil)

ⁱ FEDERAL UNIVERSITY OF RIO GRANDE DO NORTE   (Brazil)

^j FEDERAL UNIVERSITY OF PARÁ   (Brazil)

more..

Author keywords

Case control association study; KIF7; Nonsyndromic cleft lip and cleft palate; Single nucleotide polymorphism; TCEB3

Indexed keywords

AXIS INHIBITION PROTEIN 2; BONE MORPHOGENETIC PROTEIN 4; DISHEVELLED 2; HOMEODOMAIN PROTEIN; JAGGED2; KINESIN; KINESIN FAMILY MEMBER 7; POSITIVE TRANSCRIPTION ELONGATION FACTOR B; PROTEASE SERINE 35; SERINE PROTEINASE; SONIC HEDGEHOG PROTEIN; SPROUTY HOMOLOG 1 PROTEIN; SPROUTY PROTEIN; T BOX 10 PROTEIN; T BOX TRANSCRIPTION FACTOR; TRANSCRIPTION ELONGATION FACTOR B POLYPEPTIDE 3; TRANSCRIPTION FACTOR AP 2; TRANSCRIPTION FACTOR AP 2ALPHA; TRANSCRIPTION FACTOR MSX1; TRANSCRIPTION FACTOR MSX2; TRANSCRIPTION FACTOR PAX9; UNCLASSIFIED DRUG; VENTRAL ANTERIOR HOMEOBOX 1 PROTEIN; WNT11 PROTEIN; ELONGIN; KIF7 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ARTICLE; BRAZILIAN; CASE CONTROL STUDY; CLEFT LIP; CLEFT PALATE; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; SINGLE NUCLEOTIDE POLYMORPHISM; BRAZIL; GENETICS;

BRAZIL; CASE-CONTROL STUDIES; CLEFT LIP; CLEFT PALATE; FEMALE; HUMANS; KINESIN; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION FACTORS;

EID: 84955646174     PISSN: 10105182     EISSN: 18784119     Source Type: Journal    
DOI: 10.1016/j.jcms.2015.07.026     Document Type: Article

References (28)

1. T.K. Araujo, M. Simioni, T.M. Félix, L.T. de Souza, M.I.B. Fontes, Monlleó, and et al. 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 2012 247104
2. J.C. Barrett, B. Fry, J. Maller, and M.J. Daly Haploview: analysis and visualization of LD and haplotype maps Bioinformatics 21 2 2005 263 265
3. A. Butali, S. Suzuki, M.E. Cooper, A.M. Mansilla, K. Cuenco, E.J. Leslie, and et al. Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of non-syndromic CL(P) Am J Med Genet A 161 5 2013 965 972
4. B.T. Chiquet, S.H. Blanton, A. Burt, D. Ma, S. Stal, J.B. Mulliken, and et al. Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate Hum Mol Genet 17 2008 2212 2218
5. M.T. Cobourne, G.M. Xavier, M. Depew, L. Hagan, J. Sealby, Z. Webster, and et al. Sonic hedgehog signaling inhibits palatogenesis and arrests tooth development in a mouse model of the nevoid basal cell carcinoma syndrome Dev Biol 331 1 2009 38 49
6. P. Das, M. Hai, C. Elcock, S.M. Leal, D.T. Brown, A.H. Brook, and et al. Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia Am J Med Genet A 118 2003 35 42
7. D. Falush, M. Stephens, and J.K. Pritchard Inference of population structure using multilocus genotype data: dominant markers and null alleles Mol Ecol Notes 7 4 2007 574 578
8. F. Faul, E. Erdfelder, A.G. Lang, and A. Buchner G∗Power 3: a flexible statistical power analysis program for the social, behavioral, and biomedical sciences Behav Res Methods 39 2 2007 175 191
9. IPDTOC Working Group Prevalence at birth of cleft lip with or without cleft palate: data from the International Perinatal Database of Typical Oral Clefts (IPDTOC) Cleft Palate Craniofac J 48 1 2011 66 81
10. J.L. Jones, J.W. Canady, J.T. Brookes, G.L. Wehby, J. L'Heureux, B.C. Schutte, and et al. Wound complications after cleft repair in children with Van der Woude syndrome J Craniofac Surg 21 5 2010 1350 1353
11. A. Jugessur, M. Shi, H.K. Gjessing, R.T. Lie, A.J. Wilcox, C.R. Weinberg, and et al. 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 2011 85 92
12. A. Letra, R. Menezes, R.F. Fonseca, M. Govil, T. McHenry, M.J. Murphy, and et al. Novel cleft susceptibility genes in chromosome 6q J Dent Res 89 9 2010 927 932
13. A. Letra, B. Bjork, M.E. Cooper, H. Szabo-Rogers, F.W. Deleyiannis, L.L. Field, and et al. Association of AXIN2 with non-syndromic oral clefts in multiple populations J Dent Res 91 2012 473 478
14. I.L. Monlleó, M.Í. Fontes, E.M. Ribeiro, J. de Souza, G.F. Leal, T.M. Félix, and et al. Implementing the Brazilian database on orofacial clefts Plast Surg Int 641570 2013
15. A. Mostowska, K.K. Hozyasz, P. Wójcicki, A. Lasota, I. Dunin-Wilczyńska, and P.P. Jagodziński Association of DVL2 and AXIN2 gene polymorphisms with cleft lip with or without cleft palate in a polish population Birth Defects Res A Clin Mol Teratol 94 2012 943 950
16. S. Purcell, B. Neale, K. Todd-Brown, L. Thomas, M.A. Ferreira, D. Bender, and et al. PLINK: a tool set for whole-genome association and population-based linkage analyses Am J Hum Genet 81 3 2007 559 575
17. A. Putoux, S. Nampoothiri, N. Laurent, V. Cormier-Daire, P.L. Beales, A. Schinzel, and et al. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome J Med Genet 49 2012 713 720
18. R Development Core Team R: a language and environment for statistical computing 2011 the R Foundation for Statistical Computing Vienna, Austria ISBN: 3-900051-07-0. Available online at: http://www.R-project.org/
19. A. Rojas-Martinez, H. Reutter, O. Chacon-Camacho, R.B.R. Leon-Cachon, S.G. Munoz-Jimenez, S. Nowak, and et al. Cleft lip with or without cleft palate in a Mesoamerican population: evidence for IRF6 and variants at 8q24 and 10q25 Birth Defects Res A Clin Mol Teratol 88 2010 535 537
20. N.P.C. Santos, E.M. Ribeiro-Rodrigues, A.K.C. Ribeiro-dos-Santos, R. Pereira, L. Gusmão, A. Amorim, and et al. Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (INDEL) ancestry-informative marker (AIM) panel Hum Mutat 31 2 2010 184 190
21. M. Shi, A. Mostowska, A. Jugessur, M.K. Johnson, M.A. Mansilla, K. Christensen, and et al. Identification of microdeletions in candidate genes for cleft lip and/or palate Birth Defects Res A Clin Mol Teratol 85 1 2009 42 51
22. M. Simioni, T.K. Araujo, Monlleó, C. Maurer-Morelli, and V. Gil-da-Silva-Lopes Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation J Hum Genet 60 1 2015 17 25
23. S. Suzuki, M.L. Marazita, M.E. Cooper, N. Miwa, A. Hing, A. Jugessur, and et al. Mutations in BMP4 are associated with sub-epithelial, microform, and overt cleft lip Am J Hum Genet 84 2009 406 411
24. H.J. Tsai, J.Y. Kho, N. Shaikh, S. Choudhry, M. Naqvi, D. Navarro, and et al. Admixture-matched case-control study: a practical approach for genetic association studies in admixed populations Hum Genet 118 2006 626 639
25. A.R. Vieira Unraveling human cleft lip and palate research J Dent Res 87 2008 119 125
26. A.R. Vieira, J.R. Avila, S. Daack-Hirsch, E. Dragan, T.M. Felix, F. Rahimov, and et al. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate PLoS Genet 1 2005 e64
27. X. Yang, S. Kilgallen, V. Andreeva, D.B. Spicer, I. Pinz, and R. Friesel Conditional expression of Spry1 in neural crest causes craniofacial and cardiac defects BMC Dev Biol 11 10 2010 48
28. T.M. Zucchero, M.E. Cooper, B.S. Maher, S. Daack-Hirsch, B. Nepomuceno, L. Ribeiro, and et al. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate N Engl J Med 351 2004 769 780