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

Calderon JF; Puga, AR; Guzman, ML; Astete, CP; Arriaza, M; Aracena, M; Aravena T.; Sanz P; Repetto, GM

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 casecontrol 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 22q11, but do not support association between VEGFA promoter polymorphisms and the presence of congenital heart disease in Chilean patients with this syndrome.

Más información

Título según WOS: VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
Título según SCOPUS: VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: A case-control and family-based study
Título según SCIELO: VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
Título de la Revista: BIOLOGICAL RESEARCH
Volumen: 42
Número: 4
Editorial: SOC BIOLGIA CHILE
Fecha de publicación: 2009
Página de inicio: 461
Página final: 468
Idioma: English
DOI:

10.4067/S0716-97602009000400007

Notas: ISI, SCIELO, SCOPUS