10.6084/m9.figshare.5127823.v1 Mahlman M. Mahlman M. Huusko J.M. Huusko J.M. Karjalainen M.K. Karjalainen M.K. Kaukola T. Kaukola T. Marttila R. Marttila R. Ojaniemi M. Ojaniemi M. Haataja R. Haataja R. Lavoie P.M. Lavoie P.M. Rämet M. Rämet M. Hallman M. Hallman M. Supplementary Material for: Genes Encoding Vascular Endothelial Growth Factor A (VEGF-A) and VEGF Receptor 2 (VEGFR-2) and Risk for Bronchopulmonary Dysplasia Karger Publishers 2015 Preterm infant Broncopulmonary dysplasia Single nucleotide polymorphism Association analysis 2015-05-13 00:00:00 Dataset https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Genes_Encoding_Vascular_Endothelial_Growth_Factor_A_VEGF-A_and_VEGF_Receptor_2_VEGFR-2_and_Risk_for_Bronchopulmonary_Dysplasia/5127823 <b><i>Background:</i></b> 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. <b><i>Objective:</i></b> To study whether common polymorphisms of the genes encoding VEGF-A and VEGFR-2 are associated with BPD. <b><i>Methods:</i></b> In this association study, six tagging single nucleotide polymorphism (tSNPs) for <i>VEGFA</i> and 25 tSNPs for <i>VEGFR2</i> 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. <b><i>Results:</i></b><i>VEGFR2</i> 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. <b><i>Conclusions:</i></b> 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 <i>VEGFA</i> and <i>VEGFR2</i> 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.