Table 3.
Unique genes identified in human pulmonary hypertension.
| Publication | Gene(s) identified | PH Classification |
|---|---|---|
| Thomson, J.R. et al. 2000 [45] Newman, J.H. et al. 2001 [44] |
BMPR2 | PAH |
| Trembath, R.C. et al. 2001 [53] | ALK1 | PAH |
| Chaouat A. et al. 2004 [52] | Eng | PAH |
| Shintani, M. et al. 2009 [50] | Smad9 | PAH |
| Austin, E.D. et al. 2012 [54] | CAV1 | PAH |
| Ma, L. et al. 2013 [55] | KCNK3 | PAH |
| Risbano et al. 2010 [58] | 1L7R, LRRN3, NOG, NMT2, TUBE1, MAP9, CCR7, TGFBR2 | SSc-PAH |
| Gaskill et al. 2016 [61] | SPON2, PEAR1, TNC, NEO1, DKK1, PDK4, WLS, RGS5, PTGS2 | PAH (fibroblasts) |
| Garcia-Lucio, J. et al. 2016 [70] | ANGPT-2 | COPD-PH |
| Hoffman, J. et al. 2014 [72] |
Upregulated FOSB, BTG2, NPTXR, MYOM1, ZNF776, RERGL, EGR1, LOC572558, NTRK3, S1K1 Downregulated UBE2C, CMTM3, SNX24, CLDN4, NEDD4L, ZNF521, SLC34A3, SLC34A2, COL6A3, NCEH1, SERP1NA1, HOPX, DHCR24, 1RX3, NKX2-1, SCNN1A, TJP3, POSTN, GGT5 |
COPD-PH |
| Hoffman, J. et al. 2014 [72] |
Upregulated S100A2, MMP1, SCGB1A1, MMP7, C20orf85, BCAS1, CXCL14, KRT17, WDR38, TR1M29, S1X1, BDKRB2, GPX2, CL1C6, TUBB3, HMGB3, SCGB3A1, CLCA2, C6orf165, SOX2, CBX8, STK33, SAA2, MUC4, FANK1 Downregulated TMEM88, PDE1B, MMRN2, PLA1A, C1orf115, PTPRR, IDO1, CLDN5, CLEC14A, PNMT, PCYT2, SDPR, HBA2, ADRB2 |
IPF-PH |
| Hoffman, J. et al 2014 [72] |
Upregulated UGT1A6, ALDH1A1, CYP2A7, RDH10, LAMC2, SDC1, LAMB3, COL3A1, COL6A3, TNC, 1TGB6, THBS2 Downregulated CYP4A11, CYP2C19, ADH5, PNPLA4, ALDH1A2, CYP26B1, VWF, ITGA8 |
IPF-PH vs COPD-PH |
| Gu, S. et al. 2014 [74] | ORL1, IL8 | CTEPH |
| Desai, A.A. et al. 2012 [79] | ADORA2B, C1QBP, ADC, MYL10, PRELP, SPDEF, GALNT13, SLC27A5, NAT8L, C9orf16 | SCD-PH |
| Singla, S. et al. 2016 [80] | HIST1H4C, ETHE1, WASF1, RGS19, CORO1B, CACHD1, SUMO4, LOC100128751, RASSF3, STOX1, CD177, SERPINB8, FXYD6, NRCAM, RCVRN, BLOC1S1, SH3BGRL3, SLC22A16 | Sarcoidosis-PH |
PAH indicates pulmonary arterial hypertension, SSc-PAH, pulmonary arterial hypertension related to systemic sclerosis; COPD-PH, pulmonary hypertension related to chronic obstructive pulmonary disease; IPF-PH, pulmonary hypertension related to idiopathic pulmonary fibrosis; CTEPH, chronic thromboembolic pulmonary hypertension; SCD-PH, pulmonary hypertension related to sickle cell disease.