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ASSOCIATION OF AXIN2 WITH NON-SYNDROMIC ORAL CLEFTS IN MULTIPLE POPULATIONS
Letra, A. et al. | Date Issued: 2012
Author
Letra, A.
Bjork, B.
Cooper, M. E.
Szabo-Rogers, H.
Deleyiannis, F. W. B.
Field, L. L.
Czeizel, A. E.
Ma, L.
Garlet, G. P.
Poletta, F. A.
Mereb, J. C.
Lopez-Camelo, J. S.
Castilla, E. E.
Orioli, I. M.
Wendell, S.
Blanton, S. H.
Liu, K.
Hecht, J. T.
Marazita, M. L.
Vieira, A. R.
Silva, R. M.
Affilliation
University of Texas Health Science Center at Houston. School of Dentristy. Houston, TX, USA / University of Texas Health Science Center at Houston. Pediatric Research center. Houston, TX, USA.
Midwestern University. Chicago College of Osteopathic Medicine. Department of Biochemistry. IL, USA.
University of Pittsburgh. School of Dental Medicine. Center for Craniofacial and Dental Genetics. Departments of Oral Biology. PA, USA.
King’s College London. Department of Craniofacial Development. London, UK.
University of Colorado School of Medicine. Departments of Surgery and Otolaryngology. Denver, CO, USA.
University of British Columbia. Department of Medical Genetics. Vancouver, BC, Canada.
Foundation for the Community Control of Hereditary Diseases. Budapest, Hungary.
Beijing University. School of Stomatology. Beijing, China.
Universidade de São Paulo. Departamento de Ciências Biológicas. Bauru, SP, Brasil.
ECLAMC (Latin American Collaborative Study of Congenital Malformations) at CEMIC (Center for Medical Education and Clinical Research). Buenos Aires, Argentina.
ECLAMC at Hospital de Area El Bolsón. Río Negro, Argentina.
ECLAMC at IMBICE (Multidisciplinary Institute of Cellular Biology). La Plata, Argentina.
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. ECLAMC at INAGEMP-CNPq (National Institute of Population Medical Genetics). Rio de Janeiro, RJ, Brasil.
ECLAMC (Estudo Colaborativo Latino Americano de Malformações Congênitas) at Departamento de Genética, Instituto de Biologia, Rio de Janeiro, Brasil / INAGEMP (Instituto Nacional de Genética Médica Populacional). Rio de Janeiro, RJ, Brasil.
University of Pittsburgh. School of Dental Medicine. Center for Craniofacial and Dental Genetics. Departments of Oral Biology. PA, USA.
University of Miami Miller School of Medicine. Miami, FL, USA.
King’s College London. Department of Craniofacial Development. London, UK.
University of Texas Health Science Center at Houston. Pediatric Research center. Houston, TX, USA.
University of Pittsburgh. School of Dental Medicine. Center for Craniofacial and Dental Genetics. Departments of Oral Biology. PA, USA.
University of Pittsburgh. School of Dental Medicine. Center for Craniofacial and Dental Genetics. Departments of Oral Biology. PA, USA.
University of Texas Health Science Center at Houston. School of Dentristy. Houston, TX, USA / University of Texas Health Science Center at Houston. Pediatric Research center. Houston, TX, USA.
Abstract
We have previously shown the association of AXIN2 with oral clefts in a US population. Here, we expanded our study to explore the association of 11 AXIN2 markers in 682 cleft families from multiple populations. Alleles for each AXIN2 marker were tested for transmission distortion with clefts by means of the Family-based Association Test. We observed an association with SNP rs7224837 and all clefts in the combined populations (p = 0.001), and with SNP rs3923086 and cleft lip and palate in Asian populations (p = 0.004). We confirmed our association findings in an additional 528 cleft families from the United States (p < 0.009). We tested for gene-gene interaction between AXIN2 and additional cleft susceptibility loci. We assessed and detected Axin2 mRNA and protein expression during murine palatogenesis. In addition, we also observed co-localization of Axin2 with Irf6 proteins, particularly in the epithelium. Our results continue to support a role for AXIN2 in the etiology of human clefting. Additional studies should be performed to improve our understanding of the biological mechanisms linking AXIN2 to oral clefts.
Keywords
cleft lip and palate
gene expression
genetics
gene-gene interactions
wnt pathway
craniofacial anomalies
 
DeCS
Anormalidades Craniofaciais
Fenda Labial
Genética
Expressão Gênica
Palato
 
Publisher
SAGE Publications
Citation
LETRA, A. et al. Association of AXIN2 with Nonsyndromic Oral Clefts in Multiple Populations. J Dent Res, v.91, n.5, p.473-478, 2012.
DOI
10.1177/0022034512440578
ISSN
1544-0591