CBLN2 rs2217560 was Associated with Pulmonary Arteria Hypertension in Systemic Lupus Erythematosus  

作　　者：Can Huang Jun Yang Meng-Tao Li Qian Wang Jiu-Liang Zhao Xiao-Xi Yang Zhuang Tian Yong-Tai Liu Xiao-Xiao Guo Hui Wang Jin-Zhi Lai Yan-Jiang Xing Xiao-Feng Zeng 

机构地区：[1]Department of Rheumatology,Peking Union Medical College Hospital,Peking Union Medical Coliege and Chinese Academy of Medical Science,Key Laboratory of Rheumatology and Clinical Immunology,Ministry of Education,Beijing 100730,China [2]Department of Cell Biology,State Key Laboratory of Medical Molecular Biology,Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences and School of Basic Medicine,Peking Union Medical College,Beijing 100005,China [3]Department of Cardiology,Peking Union Medical College Hospital,Peking Union Medical College and Chinese Academy of Medical Science, Beijing 100730,China

出　　处：《Chinese Medical Journal》2018年第24期3020-3021,共2页中华医学杂志（英文版）

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).

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.

关 键 词：CBLN2 rs2217560 PULMONARY Arteria HYPERTENSION SYSTEMIC LUPUS ERYTHEMATOSUS 

分 类 号：R[医药卫生]