Table 3 Clinical phenotypes of KLK1 and GGCX variant carriers at PAH diagnosis and compared to mean phenotypes of BMPR2 variant carriers
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 | Â | Â | Â | 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 | Â | Â | Â | 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 | Â | Â | Â | 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 | Â | Â | Â | 181 | 175 | 172 | 123 | 120 | 114 | 114 |
p value, GGCX vs BMPR2 |  |  |  | < 0.0001 | 0.02 | NS | 0.004 | 0.01 | NS | 0.007 |