title: Genes Encoding Vascular Endothelial Growth Factor A (VEGF-A) and VEGF Receptor 2 (VEGFR-2) and Risk for Bronchopulmonary Dysplasia.
abstract: BACKGROUND
  Bronchopulmonary dysplasia (BPD) is one of the main consequences of prematurity, with notably high heritability. Vascular endothelial growth factor A (VEGF-A) and its main receptor, vascular endothelial growth factor receptor 2 (VEGFR-2), have been implicated in the pathogenesis of BPD.
  
  
  OBJECTIVE
  To study whether common polymorphisms of the genes encoding VEGF-A and VEGFR-2 are associated with BPD.
  
  
  METHODS
  In this association study, six tagging single nucleotide polymorphism (tSNPs) for VEGFA and 25 tSNPs for VEGFR2 were genotyped in a prospectively collected, genetically homogeneous discovery population of 160 infants (44 infants with grade 2-3 BPD) born before 30 completed gestational weeks. The replication population of 328 infants included 120 cases of BPD.
  
  
  RESULTS
  VEGFR2 SNP rs4576072 was associated with BPD grade 2-3 with a minor allele frequency in 23.9% of the cases compared to 9.1% in controls (p = 0.0005, odds ratio 3.15, 95% CI: 1.62-6.12) in the discovery population. This association was not observed in the more heterogeneous replication population.
  
  
  CONCLUSIONS
  In line with the results of recent large-scale genetic studies, our findings indicate that common polymorphisms of the genes encoding VEGF-A and VEGFR-2 are not consistently associated with BPD. This finding does not rule out the involvement of VEGFA and VEGFR2 in BPD pathogenesis since, in addition to common variations within the gene region, other mechanisms also play important roles in the regulation of gene function.
authors.affiliation: PEDEGO Research Center, and Medical Research Center Oulu, University of Oulu, Oulu, Finland.
authors.forename: Mari
authors.initials: M
authors.lastname: Mahlman
authors.forename: Johanna M
authors.initials: JM
authors.lastname: Huusko
authors.forename: Minna K
authors.initials: MK
authors.lastname: Karjalainen
authors.forename: Tuula
authors.initials: T
authors.lastname: Kaukola
authors.forename: Riitta
authors.initials: R
authors.lastname: Marttila
authors.forename: Marja
authors.initials: M
authors.lastname: Ojaniemi
authors.forename: Ritva
authors.initials: R
authors.lastname: Haataja
authors.forename: Pascal M
authors.initials: PM
authors.lastname: Lavoie
authors.forename: Mika
authors.initials: M
authors.lastname: Rämet
authors.forename: Mikko
authors.initials: M
authors.lastname: Hallman
mesh_terms: D001997:Bronchopulmonary Dysplasia / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007223:Infant; D052577:Infant, Extremely Low Birth Weight; D062071:Infant, Extremely Premature; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011446:Prospective Studies; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics*; D040301:Vascular Endothelial Growth Factor Receptor-2 / Q000235:genetics
chemical_list: C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; C000588866:KDR protein, human; D040301:Vascular Endothelial Growth Factor Receptor-2