Table V.
Summary statistics from the genes in the gene set GO_DNA_DOUBLE_STRAND_BREAK_PROCESSING
| ENSEMBLE_ID | GENE | CHR | START | STOP | NSNPS | N | ZSTAT | P |
|---|---|---|---|---|---|---|---|---|
| ENSG00000138376 | BARD1 | 2 | 215590370 | 215674428 | 14 | 219 | 2.738 | 0.0030911 |
| ENSG00000197299 | BLM | 15 | 91260558 | 91358859 | 10 | 219 | 2.3482 | 0.0094324 |
| ENSG00000101773 | RBBP8 | 18 | 20378224 | 20606451 | 5 | 219 | 2.1133 | 0.017287 |
| ENSG00000138346 | DNA2 | 10 | 70173821 | 70231879 | 11 | 219 | 2.0754 | 0.018975 |
| ENSG00000002016 | RAD52 | 12 | 1021243 | 1099219 | 9 | 219 | 2.0436 | 0.020498 |
| ENSG00000020922 | MRE11A | 11 | 94152895 | 94227074 | 6 | 219 | 1.52 | 0.06425 |
| ENSG00000104320 | NBN | 8 | 90945564 | 91015456 | 7 | 219 | 1.429 | 0.076508 |
| ENSG00000188827 | SLX4 | 16 | 3631182 | 3661599 | 31 | 219 | 0.71212 | 0.23819 |
| ENSG00000012048 | BRCA1 | 17 | 41196312 | 41277500 | 19 | 219 | 0.59316 | 0.27654 |
| ENSG00000081177 | EXD2 | 14 | 69658228 | 69709075 | 6 | 219 | 0.55103 | 0.29081 |
| ENSG00000163104 | SMARCAD1 | 4 | 95128762 | 95212443 | 5 | 219 | 0.49758 | 0.30939 |
| ENSG00000113522 | RAD50 | 5 | 131891711 | 131980313 | 6 | 219 | 0.45653 | 0.32401 |
| ENSG00000169139 | UBE2V2 | 8 | 48920960 | 48977268 | 1 | 219 | 0.16467 | 0.4346 |
| ENSG00000149311 | ATM | 11 | 108093211 | 108239829 | 27 | 219 | 0.15251 | 0.43939 |
| ENSG00000172977 | KAT5 | 11 | 65479467 | 65487075 | 2 | 219 | -0.11052 | 0.544 |
| ENSG00000134758 | RNF138 | 18 | 29671818 | 29711524 | 1 | 219 | -0.21175 | 0.58385 |
| ENSG00000170364 | SETMAR | 3 | 4344988 | 4359251 | 11 | 219 | -0.36877 | 0.64385 |
In this study, we have provided further evidence that abdominal aortic aneuryms (AAAs) may be a result of multiple pathophysiologies rather than a single disease. We have identified genetic variants involved in vitamin D signaling, cholesterol metabolism, extracellular matrix breakdown, and double-stranded DNA break repair associated with structural defects in the aortic wall in patients with AAAs who are of European descent. Patients with AAAs and structural defects in the thoracic aorta have been previously linked to differential behavior following endovascular aneurysm repair. These patients with wall defects exhibited greater sac regression, a marker of surgical success, following endovascular aneurysm repair. Our study demonstrates the utility of a radiogenomic approach for elucidating mechanisms behind the formation and future behavior of AAAs which could aid surgeons in making future procedural and management decisions.