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Type: Artigo de periódico
Title: A Multicentric Association Study Between 39 Genes And Nonsyndromic Cleft Lip And Palate In A Brazilian Population.
Author: Araujo, Tânia Kawasaki de
Secolin, Rodrigo
Félix, Têmis Maria
Souza, Liliane Todeschini de
Fontes, Marshall Ítalo Barros
Monlleó, Isabella Lopes
Souza, Josiane de
Fett-Conte, Agnes Cristina
Ribeiro, Erlane Marques
Xavier, Ana Carolina
Rezende, Adriana Augusto de
Simioni, Milena
Ribeiro-Dos-Santos, Ândrea Kely Campos
Santos, Sidney Emanuel Batista Dos
Gil-da-Silva-Lopes, Vera Lúcia
Abstract: 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. 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)]. 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. 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: Case-control Association Study
Nonsyndromic Cleft Lip And Cleft Palate
Single Nucleotide Polymorphism
Citation: Journal Of Cranio-maxillo-facial Surgery : Official Publication Of The European Association For Cranio-maxillo-facial Surgery. v. 44, n. 1, p. 16-20, 2016-Jan.
Rights: embargo
Identifier DOI: 10.1016/j.jcms.2015.07.026
Date Issue: 2016
Appears in Collections:Unicamp - Artigos e Outros Documentos

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