Table 3: Clinical characteristics associated with the presence of a COL5A1 SNV predicted as deleterious by in silico analysis in the multifocal FMD cohort.
Values are presented as count (percentage) or mean ± standard deviation. Tests of independence were carried out using Student’s t-test for continuous variables and Fisher’s exact test for binary variables, comparing individuals in the FMD cohort with a predicted deleterious COL5A1 SNV and individuals without a deleterious COL5A1 SNV. The primary analysis was for the proportion of individuals with any dissection, provided with all other arterial bed involvement in the FMD exome-sequenced cohort. P values are provided for comparisons with all counts >3.
| No Deleterious COL5A1 SNV | Deleterious COL5A1 SNV | |||||
|---|---|---|---|---|---|---|
| Variable | Total Sample | N | % | N | % | P |
| Total N Per Group | 264 | 257 | 100.0% | 7 | 100.0% | |
| Demographics | ||||||
| Female | 257 | 250 | 97.3% | 7 | 100.0% | |
| Caucasian | 255 | 248 | 96.5% | 7 | 100.0% | |
| Age at vascular diagnosis | 50.3 ± 10.4 | 50.4 ± 10.5 | - | 48.4 ± 5.1 | - | |
| Arteriopathy Risk Factors & Comorbidities | ||||||
| Hypertension | 170 | 165 | 64.2% | 5 | 71.4% | 1 |
| Smoking history | 98 | 94 | 36.6% | 4 | 57.1% | 0.50 |
| Stroke | 45 | 43 | 16.7% | 2 | 28.6% | 0.62 |
| Family History of FMD | 14 | 14 | 5.4% | 0 | 0.0% | - |
| Ehlers Danlos Syndrome* | 3 | 3 | 1.2% | 0 | 0.0% | - |
| Marfan Syndrome | 1 | 1 | 0.4% | 0 | 0.0% | - |
| Loeys-Dietz Syndrome | 0 | 0 | 0.0% | 0 | 0.0% | - |
| Dissection | ||||||
| Proportion of Individuals With Any Dissection† | 0.35 ± 0.48 | 0.34 ± 0.47 | - | 0.86 ± 0.47 | - | 0.005 |
| Number of Affected Arteries | 0.55 ± 0.91 | 0.51 ± 0.87 | - | 2.0 ± 0.87 | - | 0.016 |
| Aorta | 4 | 4 | 1.6% | 0 | 0.0% | - |
| Cerebral | 1 | 1 | 0.4% | 0 | 0.0% | - |
| Cervical | 70 | 66 | 25.7% | 4 | 57.1% | 0.25 |
| Internal Carotid Artery | 63 | 60 | 23.3% | 3 | 42.9% | 0.41 |
| Vertebral artery | 22 | 20 | 7.8% | 2 | 28.6% | - |
| Coronary | 11 | 11 | 4.3% | 0 | 0.0% | - |
| Lower Extremity | 7 | 5 | 1.9% | 2 | 28.6% | - |
| Upper Extremity | 0 | 0 | 0.0% | 0 | 0.0% | 1 |
| Visceral | 12 | 9 | 3.5% | 3 | 42.9% | 0.006 |
| Mesenteric | 6 | 4 | 1.6% | 2 | 28.6% | - |
| Renal | 7 | 5 | 1.9% | 2 | 28.6% | - |
| Aneurysm | ||||||
| Proportion of Individuals With Any Aneurysm‡ | 0.24 ± 0.43 | 0.23 ± 0.42 | - | 0.43 ± 0.42 | - | 0.19 |
| Number of Affected Arteries | 0.41 ± 0.89 | 0.40 ± 088 | - | 0.71 ± 0.89 | - | 0.24 |
| Aorta | 6 | 6 | 2.3% | 0 | 0.0% | - |
| Cerebral | 19 | 19 | 7.4% | 0 | 0.0% | - |
| Cervical | 27 | 26 | 10.1% | 1 | 14.3% | - |
| Internal Carotid Artery | 25 | 25 | 9.7% | 0 | 0.0% | - |
| Vertebral artery | 2 | 1 | 0.4% | 1 | 14.3% | - |
| Coronary | 0 | 0 | 0.0% | 0 | 0.0% | - |
| Lower Extremity | 1 | 0 | 0.0% | 1 | 14.3% | - |
| Upper Extremity | 0 | 0 | 0.0% | 0 | 0.0% | - |
| Visceral | 29 | 27 | 10.5% | 2 | 28.6% | - |
| Mesenteric | 2 | 1 | 0.4% | 1 | 14.3% | - |
| Renal | 23 | 22 | 8.6% | 1 | 14.3% | - |
| Multifocal FMD | ||||||
| Number of Affected Arteries | 2.00 ± 1.31 | 1.98 ± 1.31 | - | 2.57 ± 1.31 | - | 0.13 |
| Aorta | 2 | 2 | 0.8% | 0 | 0.0% | - |
| Cerebral | 29 | 28 | 10.9% | 1 | 14.3% | - |
| Cervical | 200 | 196 | 76.3% | 4 | 57.1% | 0.76 |
| Internal Carotid Artery | 195 | 191 | 74.3% | 4 | 57.1% | 0.77 |
| Vertebral artery | 10 | 10 | 3.9% | 0 | 0.0% | - |
| Coronary | 6 | 6 | 2.3% | 0 | 0.0% | - |
| Lower Extremity | 37 | 34 | 13.2% | 3 | 42.9% | 0.11 |
| Upper Extremity | 4 | 4 | 1.6% | 0 | 0.0% | - |
| Visceral | 168 | 162 | 63.0% | 6 | 85.7% | 0.58 |
| Mesenteric | 20 | 18 | 7.0% | 2 | 28.6% | - |
| Renal | 161 | 156 | 60.7% | 5 | 71.4% | 0.77 |
*
No cases of cEDS or vEDS;
†
Number of individuals with any dissection was =92;
‡
Number of individuals with any aneurysm was =63