ABSTRACT
PURPOSE: The aim of this study was to use the TaqMan OpenArray system to evaluate associations between 39 genes and the etiology of nonsyndromic cleft lip and palate (NSCLP) in a Brazilian population. MATERIAL AND METHODS: This case-control association study was designed with 80.11% statistical power according to logistic regression (GPOWER software). The case group had 182 patients with NSCLP enrolled in the Brazilian Database on Orofacial Clefts. The controls included 355 healthy individuals with no history of oral clefting in the past three generations. All samples were genotyped for 253 tag single nucleotide polymorphisms (tagSNPs) in 39 genes, including two that had recently been associated with this process. The association analysis was performed using logistic regression and stepwise regression. The results were corrected for multiple testing [Bonferroni correction and False Discovery Rate (FDR)]. RESULTS: Twenty-four SNPs in 16 genes were significantly associated with the etiology of NSCLP, including MSX1, SPRY1, MSX2, PRSS35, TFAP2A, SHH, VAX1, TBX10, WNT11, PAX9, BMP4, JAG2, AXIN2, DVL2, KIF7, and TCBE3. Stepwise regression analysis revealed that 11 genes contributed to 15.5% of the etiology of NSCLP in the sample. CONCLUSION: This is the first study to associate KIF7 and TCEB3 with the etiology of NSCLP. New technological approaches using the same design should help to identify further etiological susceptibility variants.
Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , Polymorphism, Single Nucleotide , Brazil , Case-Control Studies , Elongin , Female , Humans , Kinesins/genetics , Male , Transcription Factors/geneticsABSTRACT
Objetivo: determinar la prevalencia de malformaciones asociadas en una población infantil afectada por fisuras del labio y/o paladar. Material y métodos: estudio observacional, predominantemente descriptivo, sobre 128 niños con fisuras de labio y/o paladar, nacidos en el Hospital Materno Provincial "Fé del Valle" de Manzanillo, Cuba, entre 1990 y 2011. Los datos fueron registrados sistemática y prospectivamente. Las variables utilizadas fueron: sexo, color de la piel, tipo de fisura y malformaciones asociadas. La información se resumió en base a las frecuencias, a partir de las cuales se establecieron datos de asociación intervariables y se calcularon tasas específicas de prevalencia. El riesgo de malformaciones asociadas se estimó para cada tipo de fisura a partir de la medición de la razón de posibilidades (RP) y sus intervalos de confianza del 95% (IC 95%). Resultados: la prevalencia de malformaciones asociadas en estos pacientes fue del 20,3% con predominio en el sistema osteomioarticular. Las fisuras labiopalatinas presentaron el mayor riesgo de malformación asociada (RP=2,08; IC 95%:0,83 - 5,2). Conclusiones: la prevalencia de malformaciones asociadas en esta población es concordante con las variaciones reportadas para este indicador. Aparentemente, hay un riesgo mayor de comorbilidad malformativa para las fisuras labio-alveolo-palatinas.
Objective: to determinate the prevalence of associated malformations in children with cleft lip and cleft palate. Methods: observational and descriptive study performed on 128 children with cleft lip and/or palate born at the "Fé del Valle" Maternal Hospital, in Manzanillo, Cuba, between 1990 and 2011. Data were systematically and prospectively collected. The following variables were used: sex, color of skin, type of cleft and associated malformations. Information was resumed by frequencies to establish association data and estimate prevalence rates. Risk of associated malformations was estimated for each type of cleft by means of Odds ratio and its 95% confidence intervals. Results: prevalence of associated malformations in these patients was 20,3 % with predominance of osteomioarticular anomalies. Cleft lip associated to cleft palate showed the greater risk of associated malformations (OR=2,08; 95%CI: 0,83-5,2). Conclusions: the prevalence of associated malformations in this population agrees with previous reports. It seems to be more malformations associated with combined clefts.
ABSTRACT
La historia y el estado presente de 60 pacientes de 14-22 años de edad con fisuras del labio y paladar unilateral fue evaluado por un cirujano Máxilo facial, un Ortodoncista y un Foníatra del servicio de Cirugía Máxilo facial del Hospital Carlos Manuel de Céspedes de Bayamo. Granma. Cuba. Los resultados mostraron que más de la mitad de esos pacientes tenían integro el tratamiento por uno de los especialistas. Solo 27 pacientes (16.2 por ciento) habían completado el tratamiento por los tres especialistas. Los factores que contribuyeron a este porcentaje fueron discutidos
The evaluation of the results of an interdisciplinary team for the treatment of the unilateral cleft lip and cleft palate in Maxillo-Facial surgical service from University Provincial Hospital Carlos Manuel de Cespedes Bayamo, Granma, Cuba. The present state of 60 patients from 14 to 22 years old was evaluate by a maxillo facial surgeon, an orthodoncist and a pfoniatriciam. The results showed that more tham half of the patients had finished treatment by one of the specialist. Only 27 patients (16,2 percent) had completed treatment by the three specialist.The factors that contributed to this percentage was discussed