Association of single nucleotide polymorphisms in AXIN2, BMP4, and IRF6 with Non-Syndromic Cleft Lip with or without Cleft Palate in a sample of the southeast Iranian population
J. appl. oral sci
;
25(6): 650-656, Nov.-Dec. 2017. tab, graf
Artigo
em Inglês
| LILACS, BBO
| ID: biblio-893673
ABSTRACT
Abstract Non-syndromic cleft lip with or without palate (NSCL/P) is a common congenital malformation worldwide, with complex etiology. It has been proposed that interaction of genes and environmental factors play a role in the predisposition to this disease. Objectives:
The aim of this study was to examine the association between AXIN2 (axis inhibition protein 2) rs7224837, BMP4 (bone morphogenetic protein 4) rs17563, and IRF6 (interferon regulatory factor 6) rs861019 and 2235371 polymorphisms and NSCL/P in an Iranian population. Material andMethods:
This case-control study was carried out on 132 unrelated NSCL/P patients and 156 healthy subjects. The variants were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Results:
The findings suggest that BMP4 rs17563 polymorphism significantly decreased the risk of NSCL/P in codominant (OR=0.36, 95%CI=0.17-0.79, p=0.012, CT vs CC and OR=0.11, 95%CI=0.01-0.88, p = 0.019, TT vs CC), dominant (OR=0.30, 95%CI=0.15-0.62, p = 0.0007, CT+TT vs CC), recessive (OR=0.12, 95%CI=0.02-0.99, p = 0.023, TT vs CC+CT), overdominant (OR=0.39, 95%CI = 0.18-0.84, p=0.021, CT vs CC+TT), and allele (OR=0.28, 95%CI=0.15-0.55, p<0.0001, T vs C) inheritance models. Our findings did not support an association between AXIN2 rs7224837 and IRF6 rs861019 polymorphism and risk/protection of NSCL/P. The IRF6 2235371 variant was not polymorphic in our population.Conclusion:
The results indicate that the BMP4 rs17563 variant is likely to confer a protective effect against the occurrence of NSCL/P in a sample of the southeast Iranian population.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Fenda Labial
/
Fissura Palatina
/
Fatores Reguladores de Interferon
/
Proteína Morfogenética Óssea 4
/
Proteína Axina
Tipo de estudo:
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
Limite:
Criança
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
J. appl. oral sci
Assunto da revista:
Odontologia
Ano de publicação:
2017
Tipo de documento:
Artigo
País de afiliação:
Irã
Instituição/País de afiliação:
Zahedan University of Medical Sciences/IR
Similares
MEDLINE
...
LILACS
LIS