Association Between TGFB3 and 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.authorScapoli, Luca
dc.contributor.authorJara, Lilian
dc.contributor.authorBlanco, Rafael
dc.date.accessioned2024-01-10T12:37:41Z
dc.date.available2024-01-10T12:37:41Z
dc.date.issued2010
dc.description.abstractObjective: To assess the possible association between TGFB3 allele variants and nonsyndromic cleft lip with or without cleft palate in a Chilean population.
dc.description.abstractDesign: In our study we used a case-parents trios design. The sample consisted of 150 unrelated trios ascertained through probands affected with nonsyndromic cleft lip with or without cleft palate. Three TGFB3 polymorphisms were analyzed (rs2268626, rs2268625, and rs3917201). An allele/haplotype transmission disequilibrium test was used to evaluate the possible genotype-phenotype association.
dc.description.abstractResults: An overtransmission from parents to affected progeny was observed for the A allele of rs3917201 (p = .03) and for the rs2268625-rs3917201 A-A haplotype (p = .022). A defect of transmission of rs2268625-rs3917201 G-G haplotype (p = .022) was observed also.
dc.description.abstractConclusions: Allelic and haplotypic associations implicate a possible role of TGFB3 in nonsyndromic cleft lip with or without cleft palate in the Chilean population. Additional studies are needed in order to elucidate the possible mechanisms that can explain the role of TGFB3 genetic variants in the condition.
dc.description.funderNational Fund in Science and Technology (FONDECYT)
dc.format.extent5 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1597/09-015
dc.identifier.eissn1545-1569
dc.identifier.issn1055-6656
dc.identifier.pubmedidMEDLINE:20170386
dc.identifier.urihttps://doi.org/10.1597/09-015
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/76901
dc.identifier.wosidWOS:000281619700010
dc.information.autorucMedicina;Santos J;S/I;1005923
dc.issue.numero5
dc.language.isoen
dc.nota.accesoSin adjunto
dc.pagina.final517
dc.pagina.inicio513
dc.publisherALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS
dc.revistaCLEFT PALATE-CRANIOFACIAL JOURNAL
dc.rightsregistro bibliográfico
dc.subjectassociation
dc.subjectnonsyndromic cleft lip/palate
dc.subjectTGFB3 gene
dc.subjectTRANSFORMING GROWTH FACTOR-BETA-3
dc.subjectCANDIDATE GENES
dc.subjectLINKAGE DISEQUILIBRIUM
dc.subjectORAL CLEFTS
dc.subjectOROFACIAL CLEFTS
dc.subjectMSX1
dc.subjectVARIANTS
dc.subjectJAPANESE
dc.subjectIRF6
dc.subjectSUSCEPTIBILITY
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleAssociation Between TGFB3 and Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chilean Population
dc.typeartículo
dc.volumen47
sipa.codpersvinculados1005923
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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