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Título : Gene interactions provide evidence for signaling pathways involved in cleft lip/palate in humans
Creador: Velázquez Aragón, J.A.
Nivel de acceso: Open access
Palabras clave : Labio Leporino - etiología
Labio Leporino - genética
Genotipo
humanos
Polimorfismo de Nucleótido Simple - genética
Genética de Población - México
Cleft Lip - etiology
Cleft Lip - genetics
Genotype
humans
Polymorphism, Single Nucleotide - genetics
Genetics, Population - Mexico
IRF6; Vía de señalización WNT; Genética Biología craneofacial; genética; genética molecular; cleft(s) orofacial
IRF6; WNT signaling pathway; craniofacial biology/genetics; genetics; molecular genetics; orofacial cleft(s)
Descripción : Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common craniofacial birth defect that has a complex etiology. Genome-wide association studies have recently identified new loci associated with NSCL/P, but these loci have not been analyzed in a Mexican Mestizo population. A complex etiology implies the presence of genetic interactions, but there is little available information regarding this in NSCL/P, and no signaling pathway has been clearly implicated in humans. Here, we analyzed the associations of 24 single nucleotide polymorphisms (SNPs) with NSCL/P in a Mexican Mestizo population (133 cases, 263 controls). The multifactorial dimensionality reduction method was used to examine gene-gene and gene-folic acid consumption interactions for the 24 SNPs analyzed in this study and for 2 additional SNPs that had previously been genotyped in the same study population. Six SNPs located in paired box 7, ventral anterior homeobox 1, sprouty RTK signaling antagonist 2, bone morphogenetic protein 4, and tropomyosin 1 genes were associated with higher risks of NSCL/P (P = 0.0001 to 0.04); 2 SNPs, 1 each in netrin 1 and V-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B, were associated with a lower risk of NSCL/P (P = 0.013 to 0.03); and 2 SNPs, 1 each in ATP binding cassette subfamily A member 4 (ABCA4) and noggin, showed associations with NSCL/P that approached the threshold of significance (P = 0.056 to 0.07). In addition, 6 gene-gene interactions (P = 0.0001 to 0.001) and an ABCA4-folic acid consumption interaction (P < 0.0001) were identified. On the basis of these results, combined with those of previous association studies in the literature and biological characterizations of murine models, we propose an interaction network in which interferon regulatory factor 6 plays a central role in the etiology of NSCL/P. © International & American Associations for Dental Research 2016.
Colaborador(es) u otros Autores: Velázquez-Aragón Ja
Alcántara-Ortigoza Ma
Estandia-Ortega B
Reyna-Fabián Me
Méndez-Adame Cd
González-Del Angel A.
Fecha de publicación : 2016
Tipo de publicación: Artículo
Formato: pdf
Identificador del Recurso : 10.1177/0022034516647034
Fuente: Journal of Dental Research 95(11):1257 - 1264
URI : http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2457
Idioma: eng
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