Table 4.
Novel potential TAAD-associated genes.
| Study/Methodology | Genes Identified | Animal Models | Human Cohort |
|---|---|---|---|
|
WES (WHOLE EXOME
SEQUENCING) |
MLX, DAB2IP, EP300, ZFYVE9, PML, PRKCD | - | 99 patients with TAA [112] |
| ADCK4, COL15A1 | - | 27 patients with fTAA [220] | |
| TES, TLN1, ZYX | C57/BL6 mice | 556 patients with sporadic TAA and 1092 controls [221] | |
| MCTP2 | - | 151 patients with TAAD [222] | |
| 16p13.1 duplication | - | 1 patient with fTAAD [223] | |
| C1R | - | 13 patients with BAV [224] | |
| NGS PANELS | SCARF2 | - | 810 cases of suspected TAA [225] |
| MOUSE MODELS | ADAM17 | Sm22α-Cre mice [226] | - |
| RBBP8 | Male C57/BL6 mice | 12 Aortic aneurysm/dissection samples [227] |
AAT/TAA: aortic aneurysm, thoracic; BAV: bicuspid aortic valve; FTAAD: familial thoracic aortic aneurysm and/or dissection; TAAD: thoracic aortic aneurysm and/or dissection.