Table 1 Baseline demographic data for cohorts included in study

From: Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing

Cohort

UTHealth (ES)

UTHealth (WGS)

Penn Medicine BioBank (ES)

UK Biobank (WGS)

ESTAD

HTAD

Controls

HTAD

TAA

Dissection

Controls

TAA

TAA with surgery

Dissection

Controls

Individuals Sequenced, n

551

437

1431

97 (from 57 pedigrees)

1377

262

41614

1084

263

467

447570

Age (years), average (range)

46.4 (19-60)

51.3 (15-89)

63.0 (44-81)*

57.9 (14-87)

62.5 (20-93)

61.8 (21-87)

54.6 (18-103)

60.3 (40-70)

59.1 (40-70)

60.9 (41-70)

56.7 (38-72)

Male sex, n (%)

421 (76.4)

255 (58.3)

818 (57.1)

57 (58.8)

1039 (75.5)

176 (67.2)

20373 (49.0)

760 (70.1)

178 (67.7)

290 (62.1)

203046 (45.4)

European ancestry, n (%)

450 (81.7)

409 (93.6)

1224 (85.5)

97 (100)

1175 (85.3)

177 (67.6)

28599 (68.7)

1084 (100)

263 (100)

467 (100)

447570 (100)

Hypertension, n (%)

470 (85.3)

na

167 (85.2)*

na

1071 (77.8)

245 (93.5)

22899 (55.0)

814 (75.1)

207 (78.7)

333 (71.3)

139318 (31.1)

Dissection, n (%)

551 (100)

155 (35.5)

0

19 (19.5)

0

262 (100)

0

0

0

467 (100)

0

Type A dissection, n (%)

378 (68.6)

127 (29.1)

0

18 (18.5)

0

na

0

0

0

na

0

Type B dissection, n (%)

173 (31.4)

28 (6.4)

0

1 (1)

0

na

0

0

0

na

0

P/LP variant, n (%)

51 (9.3)

37 (8.5)

0

0

38 (2.8)

31 (11.8)

0

6 (0.5)

3 (1.1)

24 (5.1)

0

  1. ES Exome sequencing, WGS Whole genome sequencing, na information not available, ESTAD sporadic aortic dissection cases <60 years of age without family history or syndromic features, HTAD Families with multiple members affected by heritable thoracic aortic disease, TAA thoracic aortic aneurysm; P/LP Pathogenic or Likely Pathogenic variant identified; *information only available from 196 individuals.