Table 2. Candidate gene burden tests comparing the number of variants in CM-1 cases with public controls from gnomAD.
| Candidate Gene | Number of SNPs passing filtering | Fisher exact 1-sided p-value | Odds Ratio (OR) | Lower Confidence Interval of OR | Upper Confidence Interval of OR |
|---|---|---|---|---|---|
| PLOD1 | 2 | 0.8149 | 0.794 | 0.265 | 1.785 |
| MSGN1 | 1 | + | |||
| COL3A1 | 6 | 0.2935 | 1.362 | 0.633 | 2.519 |
| COL5A2 | 12 | 0.0001 | 1.814 | 1.327 | 2.426 |
| COL7A1 | 14 | 0.0006 | 2.424 | 1.501 | 3.69 |
| COL6A5 | 23 | <0.0001 | 1.99 | 1.463 | 2.648 |
| CDX1 | 0 | * | |||
| ADAMTS2 | 5 | 0.2719 | 1.198 | 0.751 | 1.807 |
| TNXB | 48 | 0.9999 | 0.228 | 0.167 | 0.306 |
| VEGFA | 1 | + | |||
| DSE | 4 | 0.8806 | 0.757 | 0.383 | 1.326 |
| COL1A2 | 3 | 0.0095 | 8.273 | 2.303 | 20.678 |
| RDH10 | 0 | * | |||
| COL5A1 | 7 | 0.0934 | 1.399 | 0.895 | 2.078 |
| NRP1 | 1 | + | |||
| VEGFB | 3 | 0.0036 | 7.436 | 2.467 | 16.884 |
| FLT1 | 8 | 0.001 | 3.354 | 1.752 | 5.766 |
| HIF1A | 4 | 0.3037 | 1.509 | 0.568 | 3.178 |
| PGF | 1 | + | |||
| ALDH1A2 | 0 | * | |||
| COL1A1 | 4 | 0.0709 | 2.532 | 0.953 | 5.339 |
Significant p-values are indicated in bold.
+These genes only contained a single variant that surpassed our quality control filters and thus, were dropped from the burden analysis.
*These genes did not contain variants that surpassed our quality control filters and thus, were dropped from analysis.