Genotype/allele | Frequency | p-value | ||
CTEPH | Controls | |||
Subjects n | 214 | 200 | ||
Prothrombin (20210G>A) rs1799963 | G/A | 9 (4.3) | 4 (2.0) | 0.18 |
G/G | 198 (95.7) | 196 (98.0) | ||
A | 9 (2.2) | 4 (1.0) | 0.18 | |
G | 405 (97.8) | 396 (99.0) | ||
FVL (1691G>A) rs6025 | G/A | 15 (7.3) | 6 (3.0) | 0.05 |
G/G | 191 (49.6) | 194 (97.0) | ||
A | 15 (3.6) | 6 (1.5) | 0.05 | |
G | 397 (96.4) | 394 (400) | ||
PAI-1 (4G/5G) rs1799768 | 4G/4G | 41 (20.4) | 38 (19.2) | 0.62 |
4G/5G | 99 (49.3) | 107 (54.0) | ||
5G/5G | 61 (30.3) | 53 (26.8) | ||
4G | 181 (45.0) | 183 (46.2) | 0.74 | |
5G | 221 (55.0) | 213 (53.8) | ||
t-PA (7351C>T) rs2020918 | TT | 22 (10.7) | 25 (12.5) | 0.85 |
CT or TC | 89 (43.2) | 84 (42.0) | ||
CC | 95 (46.1) | 91 (45.5) | ||
T | 133 (32.3) | 134 (33.5) | 0.71 | |
C | 279 (67.7) | 266 (66.5) | ||
Factor XIII (100G>T/Val34Leu) rs5985 | Leu/Leu | 20 (9.8) | 15 (7.6) | 0.27 |
Val/Leu | 78 (38.2) | 64 (32.5) | ||
Val/Val | 106 (52.0) | 118 (59.9) | ||
Leu | 118 (28.9) | 94 (23.9) | 0.10 | |
Val | 290 (71.1) | 300 (76.1) | ||
Fibrinogen Aα (Thr312Ala) rs6050 | Ala/Ala | 24 (11.8) | 17 (8.5) | 0.03 |
Thr/Ala | 97 (47.5) | 76 (38.0) | ||
Thr/Thr | 83 (40.7) | 107 (53.5) | ||
Ala | 145 (35.5) | 110 (27.5) | 0.01 | |
Thr | 263 (64.5) | 290 (72.5) | ||
Fibrinogen Bβ (Arg448Lys) rs4220 | Lys/Lys | 6 (2.9) | 3 (1.5) | 0.13 |
Arg/Lys | 56 (26.9) | 71 (35.5) | ||
Arg/Arg | 146 (70.2) | 126 (63.0) | ||
Lys | 68 (16.3) | 77 (19.2) | 0.28 | |
Arg | 348 (83.7) | 323 (80.8) | ||
Fibrinogen Bβ (455G>A) rs1800790 | AA | 6 (3.0) | 4 (2.0) | 0.25 |
AG | 58 (28.9) | 72 (36.4) | ||
GG | 137 (68.2) | 122 (61.6) | ||
A | 70 (17.4) | 80 (20.2) | 0.31 | |
G | 332 (82.6) | 316 (79.8) |
All frequencies are presented as n (%). CTEPH: chronic thromboembolic pulmonary hypertension; 20210G>A: guanine (G) to adenine (A) substitution at nucleotide 20210; FVL: Factor V Leiden; PAI: plasminogen activator inhibitor; t-PA: tissue plasminogen activator; C: cytosine; T: thymidine; Val34Leu: substitution of valine (Val) 34 with leucine (Leu); Thr: threonine; Ala: alanine; Arg: arginine; Lys: lysine.