Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population
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Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population

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Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population

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dc.contributor.author Paranaíba, Lívia M. R. es
dc.contributor.author Aquino, Sibele Nascimento de es
dc.contributor.author Bufalino, Andreia es
dc.contributor.author Martelli Júnior, Hercílio es
dc.contributor.author Graner, Edgard es
dc.contributor.author Brito, Luciano Abreu es
dc.contributor.author Passos Bueno e, Maria Rita dos Santos es
dc.contributor.author Della Coletta, Ricardo es
dc.contributor.author Swerts, Mário Sérgio Oliveira es
dc.date.accessioned 2014-05-29T07:05:44Z
dc.date.available 2014-05-29T07:05:44Z
dc.date.issued 2013 es
dc.identifier.uri http://hdl.handle.net/10550/35604
dc.source Paranaíba, Lívia M. R. ; Aquino, Sibele Nascimento de ; Bufalino, Andreia ; Martelli Júnior, Hercílio ; Graner, Edgard ; Brito, Luciano Abreu ; Passos Bueno e, Maria Rita dos Santos ; Della Coletta, Ricardo ; Swerts, Mário Sérgio Oliveira. Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population. En: Medicina oral, patología oral y cirugía bucal. Ed inglesa, 2013, Vol. 18, No. 3: 414-420 es
dc.subject Odontología es
dc.subject Ciencias de la salud es
dc.title Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population es
dc.type info:eu-repo/semantics/article en
dc.type info:eu-repo/semantics/publishedVersion en
dc.subject.unesco UNESCO::CIENCIAS MÉDICAS es
dc.description.abstractenglish Background and Objective: Nonsyndromic cleft lip and/or palate (NSCL/P) is a complex disease associated with both genetic and environmental factors. One strategy for identifying of possible NSCL/P genetic causes is to evaluate polymorphic variants in genes involved in the craniofacial development. Design: We carried out a case-control analysis of 13 single nucleotide polymorphisms in 9 genes related to craniofacial development, including TBX1, PVRL1, MID1, RUNX2, TP63, TGFB3, MSX1, MYH9 and JAG2 , in 367 patients with NSCL/P and 413 unaffected controls from Brazil to determine their association with NSCL/P. Results: Four out of 13 polymorphisms (rs28649236 and rs4819522 of TBX1, rs7940667 of PVRL1 and rs1057744 of JAG2 ) were presented in our population. Comparisons of allele and genotype frequencies revealed that the G variant allele and the AG/GG genotypes of TBX1 rs28649236 occurred in a frequency significantly higher in controls than in the NSCL/P group (OR: 0.41; 95% CI: 0.25-0.67; p=0.0002). The frequencies of rs4819522, rs7940667 and rs1057744 minor alleles and genotypes were similar between control and NSCL/P group, without significant differences. No significant associations among cleft types and polymorphisms were observed. Conclusion: The study suggests for the first time evidences to an association of the G allele of TBX1 rs28649236 polymorphism and NSCL/P. es

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