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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
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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