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Table 3 Clinical phenotypes of KLK1 and GGCX variant carriers at PAH diagnosis and compared to mean phenotypes of BMPR2 variant carriers

From: Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension

Participant ID Gender PAH subclass Gene Age at dx (years) MPAP (mmHg) MPCW (mmHg) CO, Fick (L/min) PVR (Woods units) MAP (mmHg) MAP:MPAP
08–022 F IPAH KLK1 60 55 7 2.6 18.46 98 1.78
10–096 F IPAH KLK1 68 46 9 3.95 9.37 NA NA
28–049 F APAH-CHD KLK1 36 61 5 3.77 14.85 82 1.34
06–058 M IPAH KLK1 13 38 8 8.2 3.66 92 2.42
13–002 F IPAH KLK1 71 44 9 3.7 9.46 NA NA
06–007 M IPAH KLK1 26 41 11 5.8 5.17 97 2.37
12–061 F IPAH KLK1 51 53 13 NA NA 106 2.00
14–018 M IPAH KLK1 61 37 6 4.38 7.08 98 2.65
17–075 F APAH-CTD KLK1 82 27 7 5.23 3.82 NA NA
18–026 F IPAH KLK1 37 73 15 NA NA NA NA
19–013 F IPAH KLK1 51 42 13 3.6 8.06 112 2.67
19–033 F IPAH KLK1 37 34 8 5.53 4.70 93 2.74
Mean ± SD, KLK1     49 ± 20 46 ± 13 9 ± 3 4.7 ± 1.6 8.5 ± 4.9 97 ± 9 2.3 ± 0.5
n, KLK1     12 12 12 10 10 8 8
Mean ± SD, BMPR2     38 ± 15 59 ± 12 10 ± 4 3.7 ± 1.3 15.3 ± 7.3 90 ± 17 1.6 ± 0.4
n, BMPR2     181 175 172 123 120 114 114
p value, KLK1 vs BMPR2     0.014 0.0007 NS 0.02 0.004 NS < 0.0001
06–014 M FPAH GGCX 35 56 7 2.2 22.27 103 1.84
04–020 F IPAH GGCX 36 78 8 2.6 26.92 71 0.91
12–207 F IPAH GGCX 43 68 7 2.63 23.19 NA NA
32–003 M IPAH GGCX 81 31 4 4.51 5.99 NA NA
32–008 F IPAH GGCX 36 49 15 6.13 5.55 87 1.78
08–013 F APAH-CTD GGCX 66 40 9 5.8 5.34 120 3.00
26–036 F IPAH GGCX 52 70 9 NA NA 86 1.23
30–031 F IPAH GGCX 55 56 15 NA NA 121 2.16
04–029 F IPAH GGCX 60 51 8 5.53 7.78 NA NA
04–087 F IPAH GGCX 54 40 14 5.64 4.61 115 2.88
34–005 M IPAH GGCX 66 43 14 6.85 4.23 83 1.93
11–004 F IPAH GGCX 24 77 11 NA NA NA NA
22–108 F APAH-HIV GGCX 40 78 13 5.7 11.40 94 1.21
28–110 F IPAH GGCX 56 78 NA 3.6 NA 85 1.09
28–096 F IPAH GGCX 23 65 7 4.8 12.08 NA NA
08–046 F APAH-Porto GGCX 53 44 10 6.23 5.46 88 2.00
12–205 F IPAH GGCX 55 52 8 NA NA NA NA
15–008 F APAH-CHD GGCX 14 60 12 2.5 19.20 62 1.03
21–037 F APAH-CTD GGCX 45 31 12 5.26 3.61 NA NA
06–039 F IPAH GGCX 28 48 11 4.6 8.04 81 1.69
37–004 F IPAH GGCX 48 49 18 3.6 8.61 67 1.37
30–034 F APAH-CTD GGCX 49 38 17 NA NA NA NA
14–029 M IPAH GGCX 48 50 14 NA NA NA NA
37–010 F APAH-CTD GGCX 77 28 6 NA NA 74 2.64
11–090 F APAH GGCX 47 NA NA NA NA NA NA
05–013 M APAH-Porto GGCX 63 33 6 6.31 4.28 119 3.61
28–033 F IPAH GGCX 51 61 NA 3.6 NA 85 1.39
17–033 F APAH-CTD GGCX 74 45 7 3.69 10.30 88 1.96
Mean ± SD, GGCX     49 ± 16 53 ± 15 10 ± 4 4.6 ± 1.4 10.5 ± 7.4 91 ± 18 1.9 ± 0.8
n, GGCX     28 27 25 20 18 18 18
Mean ± SD, BMPR2     38 ± 15 59 ± 12 10 ± 4 3.7 ± 1.3 15.3 ± 7.3 90 ± 17 1.6 ± 0.4
n, BMPR2     181 175 172 123 120 114 114
p value, GGCX vs BMPR2     < 0.0001 0.02 NS 0.004 0.01 NS 0.007
  1. Abbreviations: Age at dx participant age at diagnosis/right heart catheterization, MPAP mean pulmonary arterial pressure, MPCW mean pulmonary capillary pressure, CO cardiac output by the Frick method, PVR pulmonary vascular resistance, MAP mean arterial pressure
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Genome Medicine

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