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Table 1 Demographic data and mean hemodynamic parameters from the US/UK PAH cohort*

From: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

  All IPAH APAH** FPAH Other***
Total, n (%) 4241 2319 (54.6) 1479 (34.8) 252 (5.9) 191 (4.6)
Sex, n (%)
 F 3187 (75.1) 1721 (74.2) 1156 (78.2) 173 (68.6) 137 (71.7)
 M 1054 (24.9) 598 (25.8) 323 (21.8) 79 (31.3) 54 (28.3)
 F:M ratio 3:1 2.9:1 3.6:1 2.3:1 2.5:1
Age-of-onset, n (%)
 Adult (≥ 18 years) 3780 (89.2) 2126 (91.7) 1256 (85.2) 213 (84.5) 185 (96.9)
 Child (< 18 years) 457 (10.8) 193 (8.3) 219 (14.8) 39 (15.4) 6 (3.1)
 Mean ± SD 45.9 ± 20.0 47.0 ± 19.5 45.2 ± 21.3 36.8 ± 16.8 47.7 ± 15.0
Ancestry, n (%)      
 EUR 3108 (74.5) 1798 (77.5) 988 (67.0) 166 (86.9) 156 (81.7)
 HISP 359 (8.6) 145 (6.3) 186 (12.6) 13 (6.8) 15 (7.9)
 AFR 365 (8.7) 166 (7.2) 189 (12.8) 2 (1.0) 8 (4.2)
 EAS 104 (2.5) 42 (1.8) 57 (3.9) 1 (0.5) 4 (2.1)
 SAS 116 (2.8) 82 (3.5) 28 (1.9) 4 (2.1) 2 (1.0)
 Other/unknown 123 (2.9) 85 (3.7) 27 (1.8) 5 (2.6) 6 (3.1)
Hemodynamic parameters, mean ± SD (n)
 MPAP, mmHg 51 ± 14 (3594) 53 ± 17 (2045) 48 ± 14 (1235) 58 ± 14 (158) 51 ± 12 (156)
  BMPR2+ 59 ± 12 (320) 60 ± 12 (197) 56 ± 16 (11) 58 ± 12 (109) 53 ± 5 (3)
  BMPR2 50 ± 14 (3394) 52 ± 14 (1928) 48 ± 14 (1257) 57 ± 17 (65) 51 ± 13 (144)
 MPCWP, mmHg 10 ± 4 (3407) 10 ± 24 (1912) 10 ± 4 (1197) 10 ± 4 (151) 11 ± 4 (147)
  BMPR2+ 10 ± 4 () 10 ± 4 () 10 ± 3 () 10 ± 4 () 8 ± 4 ()
  BMPR2 10 ± 4 () 10 ± 4 () 10 ± 4 () 10 ± 4 () 11 ± 4 ()
  1. *US/UK PAH cohort: 2572 PAH Biobank; 1134 UK NIHR BioResource; 534 CUIMC
  2. **APAH: PAH associated with connective tissue diseases, congenital heart disease, HHT, HIV
  3. ***Other: diet- and toxin-induced PAH, non-familial pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis and one case of persistent pulmonary hypertension of the newborn
  4. Abbreviations: AFR, African; EAS, East Asian; EUR, European; HISP, Hispanic; SAS, Southeast Asian; MPAP, mean pulmonary artery pressure; MPCWP, mean pulmonary capillary wedge pressure