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

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 phenot...

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Autores principales:	CALDERÓN,JUAN FRANCISCO, PUGA,ALONSO R, GUZMÁN,M. LUISA, ASTETE,CARMEN PAZ, ARRIAZA,MARTA, ARACENA,MARIANA, ARAVENA,TERESA, SANZ,PATRICIA, REPETTO,GABRIELA M
Lenguaje:	English
Publicado:	Sociedad de Biología de Chile 2009
Materias:	congenital heart disease DiGeorge syndrome genetic modifiers VEGFA velocardiofacial syndrome
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400007
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spelling	oai:scielo:S0716-976020090004000072010-03-17VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based studyCALDERÓN,JUAN FRANCISCOPUGA,ALONSO RGUZMÁN,M. LUISAASTETE,CARMEN PAZARRIAZA,MARTAARACENA,MARIANAARAVENA,TERESASANZ,PATRICIAREPETTO,GABRIELA M congenital heart disease DiGeorge syndrome genetic modifiers VEGFA velocardiofacial syndrome 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.info:eu-repo/semantics/openAccessSociedad de Biología de ChileBiological Research v.42 n.4 20092009-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400007en10.4067/S0716-97602009000400007
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	congenital heart disease DiGeorge syndrome genetic modifiers VEGFA velocardiofacial syndrome
spellingShingle	congenital heart disease DiGeorge syndrome genetic modifiers VEGFA velocardiofacial syndrome CALDERÓN,JUAN FRANCISCO PUGA,ALONSO R GUZMÁN,M. LUISA ASTETE,CARMEN PAZ ARRIAZA,MARTA ARACENA,MARIANA ARAVENA,TERESA SANZ,PATRICIA REPETTO,GABRIELA M VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
description	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.
author	CALDERÓN,JUAN FRANCISCO PUGA,ALONSO R GUZMÁN,M. LUISA ASTETE,CARMEN PAZ ARRIAZA,MARTA ARACENA,MARIANA ARAVENA,TERESA SANZ,PATRICIA REPETTO,GABRIELA M
author_facet	CALDERÓN,JUAN FRANCISCO PUGA,ALONSO R GUZMÁN,M. LUISA ASTETE,CARMEN PAZ ARRIAZA,MARTA ARACENA,MARIANA ARAVENA,TERESA SANZ,PATRICIA REPETTO,GABRIELA M
author_sort	CALDERÓN,JUAN FRANCISCO
title	VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
title_short	VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
title_full	VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
title_fullStr	VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
title_full_unstemmed	VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
title_sort	vegfa polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
publisher	Sociedad de Biología de Chile
publishDate	2009
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400007
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VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study

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