Figure 4. Overlap of genes identified in this study with published aortic disease/trait GWAS.

A, Comparison of variants identified in aortic disease GWAS (NHGRI‐EBI GWAS catalog as of September 23, 2021). Thirteen genes involved in 11 pathways in our study were identified in the 13 previously published studies. B, Fifteen genes overlapped between the list of 117 genes in Pirruccello et al's study ³⁶ of aortic size and our SVAS study. Notably, both ELN and HMCN1, identified from ascending aorta, are human aorta specific. GWAS indicates genome‐wide association studies; NHGRI‐EBI, National Human Genome Research Institute‐European Bioinformatics Institute; and SVAS, supravalvar aortic stenosis.