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

• JUAN FRANCISCO CALDERÓN ^[3] ; ALONSO R PUGA ^[3] ; M. LUISA GUZMÁN ^[3] ; CARMEN PAZ ASTETE ^[4] ; MARTA ARRIAZA ^[1] ; MARIANA ARACENA ^[4] ; TERESA ARAVENA ^[5] ; PATRICIA SANZ ^[2] ; GABRIELA M REPETTO ^[3]
  1. [1] Hospital Dr. Gustavo Fricke

     Hospital Dr. Gustavo Fricke

     Viña del Mar, Chile

     
  2. [2] Universidad de Chile

     Universidad de Chile

     Santiago, Chile

     
  3. [3] Universidad del Desarrollo-Clínica Alemana Facultad de Medicina Center for Human Genetics
  4. [4] Hospital Dr. Luis Calvo Mackenna
  5. [5] Complejo Hospitalario Dr. Sótero del Río

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• Localización: Biological Research, ISSN-e 0717-6287, ISSN 0716-9760, Vol. 42, Nº. 4, 2009, págs. 461-468
• Idioma: inglés
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• Resumen

  • 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.