NAGIOS: RODERIC FUNCIONANDO

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

Repositori DSpace/Manakin

IMPORTANT: Aquest repositori està en una versió antiga des del 3/12/2023. La nova instal.lació está en https://roderic.uv.es/

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

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.citation	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.identifier.uri	http://hdl.handle.net/10550/35604
dc.description.abstract	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.	en_US
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	journal article	es_ES
dc.subject.unesco	UNESCO::CIENCIAS MÉDICAS	es
dc.type.hasVersion	VoR	es_ES