VEGF Polymorphisms Are Associated With Endocardial Cushion Defects: A Family-Based Case-Control Study
| Autor: | Huberdina P. M. Smedts, Eric A.P. Steegers, Adriana C. Gittenberger-de Groot, Regine P. M. Steegers-Theunissen, Willem A. Helbing, André G. Uitterlinden, A Isaacs, Cornelia M. van Duijn, Dominique de Costa |
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| Přispěvatelé: | Obstetrics & Gynecology, Epidemiology, Pulmonary Medicine, Internal Medicine, Pediatrics |
| Rok vydání: | 2010 |
| Předmět: |
Male
Vascular Endothelial Growth Factor A medicine.medical_specialty genetic structures Single-nucleotide polymorphism Polymorphism Single Nucleotide Endocardial cushion formation Gene Frequency Internal medicine Genotype medicine Humans Allele Allele frequency Genetics business.industry Haplotype Case-control study Infant Transmission disequilibrium test Endocrinology Case-Control Studies Pediatrics Perinatology and Child Health Female business Endocardium |
| Zdroj: | Pediatric Research, 67(1), 23-28. Lippincott Williams & Wilkins |
| ISSN: | 1530-0447 0031-3998 |
| DOI: | 10.1203/pdr.0b013e3181c1b144 |
| Popis: | Endocardial cushion defects (ECDs) of the cardiac outflow tract are among the most common congenital heart disease phenotypes. VEGF is essential for endocardial cushion formation and derangements in VEGF synthesis lead to ECD. Three functional single nucleotide polymorphisms (SNPs) in the VEGF gene -2578 C>A, -1154 G>A, and -634 G>C play a role in cardiogenesis. In a Dutch case-control family study of triads, 190 case and 317 control children with both parents, we investigated linkage and association between these VEGF SNPs and ECD. Allele frequencies for the three VEGF SNPs were comparable between ECD children and controls. However, VEGF alleles -2578 C and 1154 G were transmitted more frequently to children with ECD (p = 0.003 and p = 0.002), in particular perimembranous ventricular septal defects (p = 0.012 and p = 0.006). The -2578A/-1154A/-634G haplotype was associated with a reduced risk of ECD (OR 0.7: 95% CI, 0.6-1.0) and was significantly less transmitted to children with ECD U) = 0.002). In a Dutch population, we show that the VEGF 2578 C, -1154 G alleles, and the AAG haplotype are associated with ECD. Possible VEGF gene-enviromnent interactions exposures are discussed. (Pediatr Res 67: 23-28, 2010) |
| Databáze: | OpenAIRE |
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