Table 3. Gene burden tests comparing CTD+ versus CTD- individuals.
| Candidate Gene | N SNPs (N SNPs after removing EDS cases) | SKAT p-value | SKAT p-value excluding EDS cases |
|---|---|---|---|
| PLOD1 | 1 (1) | 0.6325 | 0.5892 |
| MSGN1 | 5 (5) | 0.6314 | 0.6173 |
| COL3A1 | 6 (6) | 0.0193 | 0.0385 |
| COL5A2 | 11 (10) | 0.5262 | 0.5998 |
| COL7A1 | 13 (13) | 0.0081 | 0.0010 |
| COL6A5 | 22 (21) | 0.9536 | 0.9572 |
| CDX1 | 0 | * | * |
| ADAMTS2 | 5 (4) | 0.6949 | 0.7651 |
| TNXB | 40 (38) | 0.2784 | 0.2964 |
| VEGFA | 1 (1) | 0.7303 | 0.7147 |
| DSE | 3 (3) | 0.4226 | 0.4187 |
| COL1A2 | 9 (9) | 0.6671 | 0.7511 |
| RDH10 | 0 | * | * |
| COL5A1 | 11 (11) | 0.4796 | 0.4058 |
| NRP1 | 3 (3) | 0.7976 | 0.7886 |
| VEGFB | 6 (4) | 0.2104 | 0.2553 |
| FLT1 | 9 (9) | 0.1223 | 0.1337 |
| HIF1A | 4 (4) | 0.5227 | 0.4971 |
| PGF | 1 (1) | 0.2303 | 0.2147 |
| ALDH1A2 | 0 | * | * |
| COL1A1 | 13 (13) | 0.4138 | 0.4937 |
Significant p-values are indicated in bold.
*These genes did not contain variants that surpassed our quality control filters and thus, were dropped from analysis.