| VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study. | |
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MedLine Citation:
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PMID: 20140301 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Juan Francisco Calderón; Alonso R Puga; M Luisa Guzmán; Carmen Paz Astete; Marta Arriaza; Mariana Aracena; Teresa Aravena; Patricia Sanz; Gabriela M Repetto |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-01-29 |
Journal Detail:
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Title: Biological research Volume: 42 ISSN: 0717-6287 ISO Abbreviation: Biol. Res. Publication Date: 2009 |
Date Detail:
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Created Date: 2010-02-08 Completed Date: 2010-09-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9308271 Medline TA: Biol Res Country: Chile |
Other Details:
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Languages: eng Pagination: 461-8 Citation Subset: IM |
Affiliation:
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Center for Human Genetics, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Child, Preschool DiGeorge Syndrome / complications, genetics* Family Female Gene Frequency Haplotypes Heart Defects, Congenital / etiology, genetics* Humans Infant Infant, Newborn Male Polymorphism, Genetic / genetics* Vascular Endothelial Growth Factor A / genetics* Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Vascular Endothelial Growth Factor A |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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