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
Cell Therapy Center, University Hospital Antonio Pedro, Fluminense Federal University, Niterói, RJ, BR.
Department of Pediatric Dentistry and Orthodontics, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, BR.
J Appl Oral Sci. 2015 Jul-Aug;23(4):390-6. doi: 10.1590/1678-775720140517.
Nonsyndromic 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.
非综合征性口腔裂隙在巴西被视为一个公共卫生问题，其病因多因素，涉及遗传和环境因素，如母亲饮酒。已对多个候选基因进行研究，以确定其与非综合征性裂隙风险的某种关联。表皮生长因子（EGF）基因与正常颅面发育有关，其功能性+61 A>G多态性与癌症易感性相关。有人提出癌症和口腔裂隙可能共享相同的分子途径。 目的：我们的目标是评估EGF+61 A>G多态性与非综合征性口腔裂隙易感性之间的关联。 材料与方法：这项病例对照研究纳入了来自巴西的218例裂隙病例和253例对照。对照组由无先天性畸形、牙齿异常和裂隙家族史的个体组成。根据临床检查确定裂隙表型和亚表型。从通过漱口水获得的口腔黏膜细胞中提取基因组DNA。通过聚合酶链反应-限制性片段长度多态性确定EGF+61 A>G多态性基因型。 结果：我们注意到孕期母亲饮酒与裂隙发生之间的关联。当我们考虑双侧唇裂伴或不伴腭裂（CL±P）病例、伴有牙齿缺失的裂隙病例以及有裂隙家族史的裂隙病例时，与对照组相比，A等位基因和AA基因型在裂隙病例中过度表达，但差异无统计学意义。矛盾的是，仅腭裂（CP）病例中的G等位基因高于对照组，p值接近临界值。比较不同的裂隙表型，我们观察到CP和CL±P病例之间存在统计学差异。我们的数据表明，在巴西人群中，EGF+61 A>G多态性与非综合征性口腔裂隙易感性无关，但支持CL±P和CP之间存在不同的遗传背景。此外，我们证实了母亲饮酒对我们人群中裂隙风险的潜在影响。
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