Table 3. Percentage of explained variance among the different SEM models.
For each phenotypic sign Model 1 considers only age and pathogenic or VUS rare variants on FBN1 gene. Model 2 considers age, pathogenic or VUS rare variants resulted from the SKAT-O test analysis and the sign specific polygenic risk scores.
| Clinical signs | Model 1 (%) | Model 2 (%) |
|---|---|---|
| Arachnodactily | 20.1 | 25.5 |
| Aortic dissection | 0 | 13.4 |
| Aortic ectasia | 8.8 | 21.2 |
| Ectopia lentis | 9.2 | 15.6 |
| Flatfoot | 11.3 | 21.4 |
| Hyperlaxity | 0 | 18.3 |
| Mitral valve prolapse | 5.2 | 14.8 |
| Myopia | 0 | 15.8 |
| Pectus carinatum | 3.6 | 16.6 |
| Reduced elbow extension | 0 | 15.7 |
| Stretch marks | 0 | 12.2 |
| Scoliosis | 5.9 | 14.5 |
| Thumb sign | 17.6 | 21.9 |
| Wrist sign | 8 | 17.8 |
| Positivity of Ghent criteria | 24.8 | 26.6 |