Table 1.
Gene variants associated with pulmonary arterial hypertension.
| Gene | Gene ID | Chromosome | Disease | Function | Name | Refs |
|---|---|---|---|---|---|---|
| BMPR2 | 659 | 2q33.1-q33.2 | IPAH HPAH |
Member of the TGF-β receptor family | Bone morphogenetic protein receptor type 2 | [29] [19] |
| ACVRL1 | 94 | 12q13.13 | HHT/PAH HPAH |
Receptor for the TGF-β superfamily | Activin A receptor-like type 1 (ALK1) | [116] [117] |
| ENG | 2022 | 9q34.11 | HHT/PAH | Coreceptor of the TGF-β family | Endoglin | [118] |
| SMAD9 | 4093 | 13q13.3 | HPAH | Transduces signals from the TGF-β family | SMAD family member 9 | [119] |
| KCNK3 | 3777 | 2p23.3 | HPAH IPAH |
Encodes the TASK-1 channel, contributes to the membrane potential | Potassium two-pore domain channel subfamily K member 3 | [120] |
| EIF2AK4 | 440275 | 15q15.1 | PVOD/PCH | Phosphorylates eukaryotic translation initiation factor-2 (EIF2) | Eukaryotic translation initiation factor 2 alpha kinase 4 | [121] |
| TBX4 | 9496 | 17q23.2 | Small patella syndrome, PAH in children |
Involved in the development of lung disease | T-box 4 | [14] [122] |
| BMP9 | 2658 | 10q11.22 | HPAH IPAH |
Binds the TGF-β receptor | Bone morphogenetic protein 9 or growth differentiation factor 2 |
[15] |
IPAH: idiopathic pulmonary arterial hypertension, HPAH: heritable pulmonary arterial hypertension, HHT: hereditary hemorrhagic telangiectasia, PVOD/PCH: pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis.