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The functional EGF+61 polymorphism and nonsyndromic oral clefts susceptibility in a Brazilian population
FALAGAN-LOTSCH, Priscila; LOPES, Talíria Silva; KÜCHLER, Erika Calvano; TANNURE, Patrícia Nivoloni; COSTA, Marcelo de Castro; AMORIM, Lidia Maria da Fonte de; GRANJEIRO, José Mauro.
  • FALAGAN-LOTSCH, Priscila; Fluminense Federal University. University Hospital Antonio Pedro. Cell Therapy Center. Niterói. BR
  • LOPES, Talíria Silva; Fluminense Federal University. University Hospital Antonio Pedro. Cell Therapy Center. Niterói. BR
  • KÜCHLER, Erika Calvano; Fluminense Federal University. University Hospital Antonio Pedro. Cell Therapy Center. Niterói. BR
  • TANNURE, Patrícia Nivoloni; Fluminense Federal University. University Hospital Antonio Pedro. Cell Therapy Center. Niterói. BR
  • COSTA, Marcelo de Castro; Fluminense Federal University. University Hospital Antonio Pedro. Cell Therapy Center. Niterói. BR
  • AMORIM, Lidia Maria da Fonte de; Fluminense Federal University. University Hospital Antonio Pedro. Cell Therapy Center. Niterói. BR
  • GRANJEIRO, José Mauro; Fluminense Federal University. University Hospital Antonio Pedro. Cell Therapy Center. Niterói. BR
J. appl. oral sci ; 23(4): 390-396, July-Aug. 2015. tab, ilus
Article in English | LILACS, BBO | ID: lil-759356
ABSTRACT
AbstractNonsyndromic oral clefts are considered a problem of public health in Brazil, presenting a multifactorial etiology that involves genetic and environmental components, such as maternal alcohol consumption. Several candidate genes have been investigated to identify some association with nonsyndromic clefts risk. The epidermal growth factor (EGF) gene is implicated in the normal craniofacial development and its functional +61 A>G polymorphism has been related to cancer susceptibility. It has been suggested that cancer and oral clefts may share the same molecular pathways.Objective Our goal was to evaluate the association between the EGF+61 A>G polymorphism and nonsyndromic oral clefts susceptibility.Material and Methods The case-control study included 218 cleft cases and 253 controls from Brazil. The control group was comprised of individuals without congenital malformations, dental anomalies and family history of clefts. The cleft phenotypes and subphenotypes were determined based on clinical examination. Genomic DNA was extracted from oral mucosa cells obtained by mouthwash. The EGF+61 A>G polymorphism genotype was determined by polymerase chain reaction-restriction fragment length polymorphism.Results We noticed the association between maternal alcohol consumption during pregnancy and cleft occurrence. The A allele and AA genotype were over-represented in cleft cases compared with control group when we considered the bilateral cleft lip with or without cleft palate (CL±P) cases, cleft cases with tooth agenesis and cleft cases presenting family history of cleft, but the differences were not statistically significant. Contradictorily, the G allele was higher in cleft palate only (CP) cases than in control group, showing a borderline p value. Comparing the different cleft phenotypes, we observed statistical differences between CP and CL±P cases. Our data suggest the EGF+61 A>G polymorphism was not related with nonsyndromic oral clefts susceptibility in a Brazilian population, but supported the different genetic background between CL±P and CP. Moreover, we confirmed the potential effect of maternal alcohol intake on cleft risk in our population.
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Full text: Available Index: LILACS (Americas) Main subject: Polymorphism, Restriction Fragment Length / Cleft Lip / Cleft Palate / Epidermal Growth Factor / Genetic Association Studies Type of study: Etiology study / Observational study / Prognostic study / Risk factors Limits: Adolescent / Adult / Child / Female / Humans / Male / Pregnancy Country/Region as subject: South America / Brazil Language: English Journal: J. appl. oral sci Journal subject: Dentistry Year: 2015 Type: Article Affiliation country: Brazil Institution/Affiliation country: Fluminense Federal University/BR

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Full text: Available Index: LILACS (Americas) Main subject: Polymorphism, Restriction Fragment Length / Cleft Lip / Cleft Palate / Epidermal Growth Factor / Genetic Association Studies Type of study: Etiology study / Observational study / Prognostic study / Risk factors Limits: Adolescent / Adult / Child / Female / Humans / Male / Pregnancy Country/Region as subject: South America / Brazil Language: English Journal: J. appl. oral sci Journal subject: Dentistry Year: 2015 Type: Article Affiliation country: Brazil Institution/Affiliation country: Fluminense Federal University/BR