期刊
BMC MEDICAL GENETICS
卷 14, 期 -, 页码 -出版社
BMC
DOI: 10.1186/1471-2350-14-53
关键词
Nonsyndromic cleft lip with or without palate; Polymorphism; FGF12; VCL; CX43; VAX1
资金
- State of Sao Paulo Research Foundation-FAPESP, Sao Paulo, Brazil
- National Council for Scientific and Technological Development-CNPq, Brasilia, Brazil
- Minas Gerais State Research Foundation-FAPEMIG, Minas Gerais, Brazil
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.
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