Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate

BMC Medical Genetics

Ricardo D Coletta¹  Edgard Graner¹  Mario Sergio Oliveira Swerts²  Hercílio Martelli-Júnior²  Elizabete Bagordakis¹  Ana Camila Messetti¹  Sibele Nascimento de Aquino¹ 

[1] Department of Oral Diagnosis, School of Dentistry, State University of Campinas, Piracicaba, São Paulo, Brazil;Center for Rehabilitation of Craniofacial Anomalies, Dental School, University of José Rosário Vellano, Minas Gerais, Brazil

关键词: VAX1;    CX43;    VCL;    FGF12;    Polymorphism;    Nonsyndromic cleft lip with or without palate;   

Others  :  1177700
DOI  :  10.1186/1471-2350-14-53

 received in 2012-12-17, accepted in 2013-05-09,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 de Aquino et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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