Expression profiling of human foetal and adult aortic valves

Bicuspid aortic valve (BAV) is a frequent congenital heart defect with a high heritability. Identification of genes associated with the disease and the molecular mechanisms required genetic studies including genome-wide association studies (GWAS) meta-analysis. To prioritize genes identified through such meta-analysis several additional data are required including transcriptomic of aortic valve at early fetal and adult stages. RNA-sequencing was carried out on human fœtal aortic valves at 9, 13, and 22 post conceptional week (PCW) and adult controls. These data were used to compare gene expression profile of several genes identified in a GWAS meta-analysis. Comparing the expression of these genes in valve RNA-sequencing dataset we identified several genes with higher expression in fœtal tissues suggesting their involvement in aortic valve development. In conclusion, we performed integrative analyses taking advantage of human aortic valve transcriptome data to prioritize candidate causal gene of BAV.