A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population
A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population
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DOI：
10.1016/j.jcms.2015.07.026
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发表时间：
2016-01-01
影响因子：
3.1
通讯作者：
Gil-da-Silva-Lopes, Vera Lucia
中科院分区：
文献类型：
--
作者：
de Araujo, Tania Kawasaki;Secolin, Rodrigo;Gil-da-Silva-Lopes, Vera Lucia
目的：本研究的目的是使用TaqMan OpenArray系统，以评估39个基因和非综合征性唇腭裂（NSCLP）在巴西population.Material和方法的病因之间的关联：这种病例对照关联研究设计与80.11%的统计功率根据逻辑回归（GPOWER软件）。病例组有182例NSCLP患者入组巴西口面裂数据库。对照组包括355名健康个体，在过去的三代中没有口腔分裂的历史。所有样本在39个基因中进行了253个标签单核苷酸多态性（tagSNPs）的基因分型，其中包括两个最近与此过程相关的基因。采用Logistic回归和逐步回归进行关联分析。结果：16个基因的24个SNP与NSCLP的病因学显著相关，包括MSX1、SPRY1、MSX2、PRSS35、TFAP2A、SHH、VAX 1、TBX10、WNT 11、PAX9、BMP 4、JAG 2、AXIN 2、DVL 2、KIF 7和TCBE 3。逐步回归分析显示，11个基因在NSCLP的病因中占15.5%。结论：这是首次将KIF7和TCEB3与NSCLP的病因联系起来的研究。使用相同设计的新技术方法应有助于识别进一步的病因易感性变体。(C)2015年欧洲颅颌面外科协会。由爱思唯尔有限公司出版。保留所有权利。
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. (C) 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.