摘要
To the Editor:Pulmonary arterial hypertension (PAH)is a hemodynamic disorder with elevated pressure of pulmonary circulation.Genetic studies in familial PAH (fPAH)and idiopathic PAH (iPAH)have discovered that transforming growth factor-β (TGF-β) superfamily plays an important role,and the identified mutations occur in bone morphogenetic protein type 2 receptor (BMPR2), activin receptor-like kinase type 1 (ALK1),Endoglin,and SMAD9. A genome-wide association study (GWAS)in patients without BMPR2 mutations discovered that one single-nucleotide polymorphism (SNP)rs2217560 had a significant association with i/fPAH,which located 52-kb downstream of the CBLN2 gene.
基金
grants from the Chinese National High Technology Research and Development Program,Ministry of Science and Technology (No.2012AA02A513)
Chinese National Key Technology R&D Program (Nos.2017YFC0907601, 2017YFC0907602,and 2017YFC0907603)
National Natural Science Foundation of China (Nos.81400278 and 81670054).
