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http://repositorio.unicamp.br/jspui/handle/REPOSIP/70726
Type: | Artigo de periódico |
Title: | Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate |
Author: | de Aquino, SN Messetti, AC Bagordakis, E Martelli, H Swerts, MSO Graner, E Coletta, RD |
Abstract: | Background: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is the most common orofacial birth defect with a wide range prevalence among different populations. Previous association studies with populations from Europe and Asia have identified putative susceptibility markers for NSCL/P in fibroblast growth factor 12 (FGF12), vinculin (VCL), connexin 43 (CX43) and in a region close to the ventral anterior homeobox 1 (VAX1) gene. However, there have thus far been no studies of these markers in NSCL/P Brazilian patients, and as the genetic ancestry of the Brazilian population is highly varied, the predisposition to those disease markers can be different. Methods: Herein we conducted a structured association study conditioned on the individual ancestry proportions to determine the role of 16 polymorphic markers within those genes in 300 patients with NSCL/P and 385 unaffected controls. Results: None of the alleles and genotypes showed association with NSCL/P, though there was a significant association of the haplotype formed by VAX1 rs10787760, rs6585429 and rs1871345 polymorphisms with NSCL/P that did not persist Bonferroni correction for multiple tests. Conclusions: Our results are consistent with a lack of involvement of FGF12, VCL and CX43 variants with NSCL/P pathogenesis in Brazilian patients. Furthermore, the higher frequency of a haplotype of VAX1 with NSCL/P patients suggests a low penetrant gene for oral cleft, and warrants further studies. |
Subject: | Nonsyndromic cleft lip with or without palate Polymorphism FGF12 VCL CX43 VAX1 |
Country: | Inglaterra |
Editor: | Biomed Central Ltd |
Citation: | Bmc Medical Genetics. Biomed Central Ltd, v. 14, 2013. |
Rights: | aberto |
Identifier DOI: | 10.1186/1471-2350-14-53 |
Date Issue: | 2013 |
Appears in Collections: | Unicamp - Artigos e Outros Documentos |
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