• Journals
  • Discipline
  • Indexed
  • Institutions
  • About
JavaScript is disabled for your browser. Some features of this site may not work without it.
View Item 
  •   Home
  • Sociedad de Biología de Chile
  • Biological Research
  • View Item
  •   Home
  • Sociedad de Biología de Chile
  • Biological Research
  • View Item

VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study

Author
CALDERÓN,JUAN FRANCISCO

PUGA,ALONSO R

GUZMÁN,M. LUISA

ASTETE,CARMEN PAZ

ARRIAZA,MARTA

ARACENA,MARIANA

ARAVENA,TERESA

SANZ,PATRICIA

REPETTO,GABRIELA M

Full text
https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400007
Abstract
Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are very heterogeneous. Congenital heart disease is present in 50-80% of patients and is a significant cause of morbidity and mortality. The phenotypic variability suggests the presence of modifiers. Polymorphisms in the VEGFA gene, coding for the vascular endothelial growth factor A, have been associated with non-syndromic congenital heart disease, as well as with the presence of cardiovascular anomalies in patients with microdeletion 22q11. We evaluated the association of VEGFA polymorphisms c.-2578C>A (rs699947), c.-1154G>A (rs1570360) and c.-634C>G (rs2010963) with congenital heart disease in Chilean patients with microdeletion 22q11. The study was performed using case-control and family-based association designs. We evaluated 122 patients with microdeletion 22q11 and known anatomy of the heart and great vessels, and their parents. Half the patients had congenital heart disease. We obtained no evidence of association by either method of analysis. Our results provide further evidence of the incomplete penetrance of the cardiovascular phenotype of microdeletion 22ql 1, but do not support association between VEGFA promoter polymorphisms and the presence of congenital heart disease in Chilean patients with this syndrome.
Metadata
Show full item record
Discipline
Artes, Arquitectura y UrbanismoCiencias Agrarias, Forestales y VeterinariasCiencias Exactas y NaturalesCiencias SocialesDerechoEconomía y AdministraciónFilosofía y HumanidadesIngenieríaMedicinaMultidisciplinarias
Institutions
Universidad de ChileUniversidad Católica de ChileUniversidad de Santiago de ChileUniversidad de ConcepciónUniversidad Austral de ChileUniversidad Católica de ValparaísoUniversidad del Bio BioUniversidad de ValparaísoUniversidad Católica del Nortemore

Browse

All of DSpaceCommunities & CollectionsBy Issue DateAuthorsTitlesSubjectsThis CollectionBy Issue DateAuthorsTitlesSubjects

My Account

LoginRegister
Dirección de Servicios de Información y Bibliotecas (SISIB) - Universidad de Chile
© 2019 Dspace - Modificado por SISIB