ArticleBMC medical genetics2013
Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate.
Article in BMC medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Growth factor analysis in children with non-syndromic orofacial clefts: a systematic review.BMC oral health · 2026Pooled it
- Connexin 43, Bcl-2, Bax, Ki67, and E-cadherin patterns in oral squamous cell carcinoma and its relationship with GJA1 rs12197797 C/G.Medicina oral, patologia oral y cirugia bucal · 2022Article
- Machine learning in prediction of genetic risk of nonsyndromic oral clefts in the Brazilian population.Clinical oral investigations · 2021Article
- Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate.Epigenomics · 2019Article
- Haploinsufficiency of Homeodomain Proteins Six3, Vax1, and Otx2 Causes Subfertility in Mice via Distinct Mechanisms.Neuroendocrinology · 2019Review
- Common basis for orofacial clefting and cortical interneuronopathy.Translational psychiatry · 2018Article
- Association between Hand Digit Ratio (2D : 4D) and Acute Lymphoblastic Leukemia.Disease markers · 2018Article
- Nonsyndromic cleft lip and palate, gastric cancer and tooth agenesis.Medicina oral, patologia oral y cirugia bucal · 2018Observational
- Polymorphic variants in VAX1 and the risk of nonsyndromic cleft lip with or without cleft palate in a population from northern China.Medicine · 2017Article
- Heterozygous deletion of ventral anterior homeobox (vax1) causes subfertility in mice.Endocrinology · 2014Article
- Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis.The Journal of clinical investigation · 2014Article
- Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population.Brazilian journal of otorhinolaryngologyArticle
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNonsyndromic 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.
methodsHerein 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.
resultsNone 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.
conclusionsOur 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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