Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population
Med. oral patol. oral cir. bucal (Internet)
; 18(3): 414-420, mayo 2013. tab
Article
in English
| IBECS
| ID: ibc-112701
Responsible library:
ES1.1
Localization: BNCS
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, TGFâ3, MSX1, MYH9 and JAG2, in 367patients 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 rs1057744of JAG2) were presented in our population. Comparisons of allele and genotype frequencies revealed that the Gvariant 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, rs7940667and 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 rs28649236polymorphism and NSCL/P (AU)
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Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Cleft Lip
/
Cleft Palate
Type of study:
Etiology study
/
Prognostic study
/
Risk factors
Limits:
Humans
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Med. oral patol. oral cir. bucal (Internet)
Year:
2013
Document type:
Article
Institution/Affiliation country:
State University of Campinas/Brazil
/
State University of Montes Claros/Brazil
/
University of Alfenas/Brazil
/
University of São Paulo/Brazil