TABLE 1.
ESTAD-EA (n = 231) | ESP-EA (n = 4,300) | OR (95% CI) | p Value | |
---|---|---|---|---|
VUSs in ESTAD-EA versus ESP-EA | ||||
| ||||
HTAD genes VUSs | 74 | 712 | 2.42 (1.78–3.17) | 2.0 × 10−8 |
HTAD genes missense VUSs | 70 | 708 | 2.21 (1.65–2.95) | 3.9 × 10−7 |
HTAD genes synonymous variants* | 40 | 839 | 0.86 (0.61–1.23) | 0.44 |
HCM genes VUSs† | 23 | 350 | 0.80 (0.51–1.25) | 0.33 |
| ||||
VUSs in HTAD genes in ESTAD-EA versus ESP-EA | ||||
| ||||
ACTA2 | 2 | 2 | 18.77 (2.63–133.85) | 0.01 |
TGFBR2 | 7 | 10 | 13.41 (5.06–35.55) | 1.0 × 10−5 |
TGFBR1 | 7 | 32 | 4.17 (1.82–9.55) | 3.1 × 10−3 |
LOX | 3 | 19 | 2.97 (0.87–10.09) | 0.10 |
MYLK | 8 | 54 | 2.82 (1.33–6.00) | 0.01 |
SMAD3 | 1 | 7 | 2.67 (0.33–21.76) | 0.34 |
COL3A1 | 12 | 112 | 2.05 (1.11–3.77) | 0.03 |
TGFB2 | 6 | 58 | 1.95 (0.83–4.57) | 0.14 |
MYH11 | 18 | 233 | 1.48 (0.90–2.43) | 0.14 |
FBN1 | 10 | 183 | 1.02 (0.53–1.95) | 0.87 |
Values are the number of rare variants in genes grouped together (top section) or genes individually (lower section), unless otherwise indicated.
Synonymous variants do not alter amino acid sequence.
HCM genes.
CI = confidence interval; EA = European ancestry; ESP = Exome Sequencing Project; ESTAD = early onset of sporadic thoracic aortic dissection; HCM = hypertrophic cardiomyopathy; HTAD = heritable thoracic aortic disease; OR = odds ratio; VUSs = variants of unknown significance.