Pathological Mechanisms and Potential Therapeutic Targets of Pulmonary Arterial Hypertension: A Review

Xiao Ying, Chen Pei-Pei, Zhou Rui-Lin, Zhang Yang, Tian Zhuang, Zhang Shu-Yang

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]