Association Between Bone Morphogenetic Protein 4 Gene Polymorphisms with Nonsyndromic Cleft Lip with or without Cleft Palate in a Chilean Population

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dc.contributor.authorSuazo, Jose
dc.contributor.authorLuis Santos, Jose
dc.contributor.authorJara, Lilian
dc.contributor.authorBlanco, Rafael
dc.date.accessioned2024-01-10T12:04:22Z
dc.date.available2024-01-10T12:04:22Z
dc.date.issued2010
dc.description.abstractNonsyndromic cleft lip with or without cleft palate (NSCLP) is one of the most common birth defects in humans with both genetic and environmental components involved in its expression. Experimental evidences have postulated that bone morphogenetic protein 4 gene (Bmp4) is involved in the etiology of cleft lip with or without cleft palate (CL/P) in mice. In our study we analyzed the association between BMP4 and NSCLP in a sample of 150 unrelated trios ascertained through affected probands. Three BMP4 polymorphisms were analyzed, two intronic (rs762642 and rs2855532) and rs1957860, located 5.7 kb upstream from BMP4. Transmission/disequilibrium tests were performed at the allele and haplotype levels. Our results did not detect preferential transmission for individual single-nucleotide polymorphisms. Significant transmission distortion was observed for haplotypes rs1957860-rs762642 (p = 0.18), especially for C-T (p = 0.015) and T-T (p = 0.018) which include the genomic region where the promoter and an enhancer of BMP4 are located. Thus, despite the positive association detected between these haplotypes and NSCLP they probably do not have a functional effect on BMP4 expression or protein activity but possibly reflect NSCLP susceptibility changes which are in linkage disequilibrium with these polymorphisms. The findings of our study support a role for BMP4 in NSCLP in the admixed Chilean population.
dc.description.funderNational Fund in Science and Technology
dc.fechaingreso.objetodigital2024-04-26
dc.format.extent6 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1089/dna.2009.0944
dc.identifier.eissn1557-7430
dc.identifier.issn1044-5498
dc.identifier.pubmedidMEDLINE:19839778
dc.identifier.urihttps://doi.org/10.1089/dna.2009.0944
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/75774
dc.identifier.wosidWOS:000273855700002
dc.information.autorucMedicina;Jara L;S/I;8509
dc.information.autorucMedicina;Santos JL;S/I;1005923
dc.information.autorucMedicina;Suazo J;S/I;109600
dc.issue.numero2
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final64
dc.pagina.inicio59
dc.publisherMARY ANN LIEBERT, INC
dc.revistaDNA AND CELL BIOLOGY
dc.rightsacceso restringido
dc.subjectLINKAGE DISEQUILIBRIUM
dc.subjectREGION
dc.subjectPROMOTER
dc.subjectFUSION
dc.subjectIRF6
dc.subjectACTIVATION
dc.subjectSANTIAGO
dc.subjectBINDING
dc.subjectDESIGN
dc.subjectBLOOD
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleAssociation Between Bone Morphogenetic Protein 4 Gene Polymorphisms with Nonsyndromic Cleft Lip with or without Cleft Palate in a Chilean Population
dc.typeartículo
dc.volumen29
sipa.codpersvinculados8509
sipa.codpersvinculados1005923
sipa.codpersvinculados109600
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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