Title |
Assessing the association between hypoxia during craniofacial development and oral clefts
|
---|---|
Published in |
Journal of Applied Oral Science, May 2018
|
DOI | 10.1590/1678-7757-2017-0234 |
Pubmed ID | |
Authors |
Erika Calvano Küchler, Lea Assed da Silva, Paulo Nelson-Filho, Ticiana M. Sabóia, Angela M. Rentschler, José Mauro Granjeiro, Driely Oliveira, Patricia N. Tannure, Raquel Assed da Silva, Leonardo Santos Antunes, Michael Tsang, Alexandre R. Vieira |
Abstract |
Objectives To evaluate the association between hypoxia during embryo development and oral clefts in an animal model, and to evaluate the association between polymorphisms in the HIF-1A gene with oral clefts in human families. Material and Methods The study with the animal model used zebrafish embryos at 8 hours post-fertilization submitted to 30% and 50% hypoxia for 24 hours. At 5 days post-fertilization, the larvae were fixed. The cartilage structures were stained to evaluate craniofacial phenotypes. The family-based association study included 148 Brazilian nuclear families with oral clefts. The association between the genetic polymorphisms rs2301113 and rs2057482 in HIF-1A with oral clefts was tested. We used real time PCR genotyping approach. ANOVA with Tukey's post-test was used to compare means. The transmission/disequilibrium test was used to analyze the distortion of the inheritance of alleles from parents to their affected offspring. Results For the hypoxic animal model, the anterior portion of the ethmoid plate presented a gap in the anterior edge, forming a cleft. The hypoxia level was associated with the severity of the phenotype (p<0.0001). For the families, there was no under-transmitted allele among the affected progeny (p>0.05). Conclusion Hypoxia is involved in the oral cleft etiology, however, polymorphisms in HIF-1A are not associated with oral clefts in humans. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 36 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 5 | 14% |
Student > Bachelor | 5 | 14% |
Researcher | 3 | 8% |
Professor > Associate Professor | 3 | 8% |
Student > Ph. D. Student | 3 | 8% |
Other | 7 | 19% |
Unknown | 10 | 28% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 15 | 42% |
Biochemistry, Genetics and Molecular Biology | 2 | 6% |
Agricultural and Biological Sciences | 2 | 6% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 3% |
Unspecified | 1 | 3% |
Other | 3 | 8% |
Unknown | 12 | 33% |