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Assessing the association between hypoxia during craniofacial development and oral clefts.

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.
PMID
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Authors

Mayor MeshTerms

Polymorphism, Genetic

Keywords
Journal Title journal of applied oral science : revista fob
Publication Year Start




PMID- 29791568
OWN - NLM
STAT- MEDLINE
DCOM- 20180530
LR  - 20180530
IS  - 1678-7765 (Electronic)
IS  - 1678-7757 (Linking)
VI  - 26
DP  - 2018
TI  - Assessing the association between hypoxia during craniofacial development and
      oral clefts.
PG  - e20170234
LID - S1678-77572018000100456 [pii]
LID - 10.1590/1678-7757-2017-0234 [doi]
AB  - 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&lt;0.0001). For
      the families, there was no under-transmitted allele among the affected progeny
      (p&gt;0.05). Conclusion Hypoxia is involved in the oral cleft etiology, however,
      polymorphisms in HIF-1A are not associated with oral clefts in humans.
FAU - Kuchler, Erika Calvano
AU  - Kuchler EC
AD  - Departamento de Odontopediatria, Faculdade de Odontologia de Ribeirao Preto,
      Universidade de Sao Paulo, Ribeirao Preto, Sao Paulo, Brasil.
FAU - Silva, Lea Assed da
AU  - Silva LAD
AD  - Departamento de Odontopediatria, Faculdade de Odontologia de Ribeirao Preto,
      Universidade de Sao Paulo, Ribeirao Preto, Sao Paulo, Brasil.
FAU - Nelson-Filho, Paulo
AU  - Nelson-Filho P
AD  - Departamento de Odontopediatria, Faculdade de Odontologia de Ribeirao Preto,
      Universidade de Sao Paulo, Ribeirao Preto, Sao Paulo, Brasil.
FAU - Saboia, Ticiana M
AU  - Saboia TM
AD  - Unidade de Pesquisa Clinica, Universidade Federal Fluminense, Niteroi, Rio de
      Janeiro, Brasil.
FAU - Rentschler, Angela M
AU  - Rentschler AM
AD  - Department of Oral Biology, University of Pittsburgh School of Dental Medicine,
      Pittsburgh, PA, USA.
FAU - Granjeiro, Jose Mauro
AU  - Granjeiro JM
AD  - Programa de Bioengenharia, Instituto Nacional de Metrologia, Qualidade e
      Tecnologia, Xerem, Rio de Janeiro, Brasil.
FAU - Oliveira, Driely
AU  - Oliveira D
AD  - Departamento de Odontopediatria, Faculdade de Odontologia de Ribeirao Preto,
      Universidade de Sao Paulo, Ribeirao Preto, Sao Paulo, Brasil.
FAU - Tannure, Patricia N
AU  - Tannure PN
AD  - Departamento de Odontopediatria, Faculdade de Odontologia, Universidade Veiga de 
      Almeida, Rio de Janeiro, Rio de Janeiro, Brasil.
FAU - Silva, Raquel Assed da
AU  - Silva RAD
AD  - Departamento de Odontopediatria, Faculdade de Odontologia de Ribeirao Preto,
      Universidade de Sao Paulo, Ribeirao Preto, Sao Paulo, Brasil.
FAU - Antunes, Leonardo Santos
AU  - Antunes LS
AD  - Unidade de Pesquisa Clinica, Universidade Federal Fluminense, Niteroi, Rio de
      Janeiro, Brasil.
FAU - Tsang, Michael
AU  - Tsang M
AD  - Department of Developmental Biology, University of Pittsburgh School of Medicine,
      Pittsburgh, PA, USA.
FAU - Vieira, Alexandre R
AU  - Vieira AR
AD  - Department of Oral Biology, University of Pittsburgh School of Dental Medicine,
      Pittsburgh, PA, USA.
LA  - eng
PT  - Journal Article
DEP - 20180521
PL  - Brazil
TA  - J Appl Oral Sci
JT  - Journal of applied oral science : revista FOB
JID - 101189774
RN  - 0 (Hypoxia-Inducible Factor 1, alpha Subunit)
SB  - D
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Analysis of Variance
MH  - Animals
MH  - Child
MH  - Child, Preschool
MH  - Cleft Lip/*embryology/*etiology
MH  - Cleft Palate/*embryology/*etiology
MH  - Disease Models, Animal
MH  - Female
MH  - Fetal Hypoxia/*complications/genetics
MH  - Genetic Association Studies
MH  - Humans
MH  - Hypoxia-Inducible Factor 1, alpha Subunit/*genetics
MH  - Male
MH  - Middle Aged
MH  - *Polymorphism, Genetic
MH  - Real-Time Polymerase Chain Reaction
MH  - Severity of Illness Index
MH  - Statistics, Nonparametric
MH  - Young Adult
MH  - Zebrafish
PMC - PMC5953560
EDAT- 2018/05/24 06:00
MHDA- 2018/05/31 06:00
CRDT- 2018/05/24 06:00
PHST- 2017/08/24 00:00 [received]
PHST- 2017/12/28 00:00 [accepted]
PHST- 2018/05/24 06:00 [entrez]
PHST- 2018/05/24 06:00 [pubmed]
PHST- 2018/05/31 06:00 [medline]
AID - S1678-77572018000100456 [pii]
AID - 10.1590/1678-7757-2017-0234 [doi]
PST - ppublish
SO  - J Appl Oral Sci. 2018;26:e20170234. doi: 10.1590/1678-7757-2017-0234. Epub 2018
      May 21.