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Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension

Xiao-Jian Wang, Tian-Yu Lian, Xin Jiang, Shao-Fei Liu, Su-Qi Li, Rong Jiang, Wen-Hui Wu, Jue Ye, Chun-Yan Cheng, Yao Du, Xi-Qi Xu, Yan Wu, Fu-Hua Peng, Kai Sun, Yi-Min Mao, Huan Yu, Chen Liang, John Y-J. Shyy, Shu-Yang Zhang, Xue Zhang, Zhi-Cheng Jing
European Respiratory Journal 2018; DOI: 10.1183/13993003.01609-2018
Xiao-Jian Wang
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Tian-Yu Lian
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Xin Jiang
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Shao-Fei Liu
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Su-Qi Li
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Rong Jiang
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Wen-Hui Wu
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Jue Ye
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Chun-Yan Cheng
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Yao Du
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Xi-Qi Xu
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Yan Wu
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Fu-Hua Peng
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Kai Sun
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Yi-Min Mao
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Huan Yu
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Chen Liang
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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John Y-J. Shyy
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Shu-Yang Zhang
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Xue Zhang
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Zhi-Cheng Jing
From the Key Laboratory of Pulmonary Vascular Medicine & FuWai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy Medical Sciences & Peking Union Medical College (X.-J.W., X.J., T.-Y.L., S.-F.L., S.-Q.L., J.Y., C.-Y.C., Y.D., X.-Q.X., Y.W., F.-H.P., K.S., Z.-C.J.); Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China (W.-H.W., R.J.); Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China (Y.-M.M.); Novogene Co., Ltd., Beijing, China (H.Y., C.L.); Department of Medicine, University of California, San Diego, La Jolla, California, USA (J.S.); Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China (S.-Y. Z.) and McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.Z.).
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Abstract

Background Idiopathic pulmonary arterial hypertension (IPAH) is a rare disease with high heritability. Although several predisposing genes have been linked to IPAH, the genetic etiology remains unknown for a large number of IPAH cases.

Methods We conducted an exome-wide gene-based burden analysis on 2 independent case-control studies, including a total of 331 IPAH cases and 10,508 controls. Functional assessments were conducted to analyse the effects of genetic mutations on protein biosynthesis and function.

Results The gene encoding the human bone morphogenetic protein 9 (BMP9) was identified as a novel genetic locus displaying exome-wide association with IPAH in the discovery cohort (odds ratios, 18.8; p=1.9×10−11). This association was authenticated in the independent replication cohort (p=1.0×10−5). Collectively, the rare coding mutations in BMP9 gene occurred in 6.7% of cases, ranking this gene second to BMPR2, comprising a combined significance of 2.7×10−19 (odds ratio, 21.2). Intriguingly, the patients with BMP9 mutations had lower plasma level of BMP9 than those without. Functional studies showed that the BMP9 mutations led to reduced BMP9 secretion and impaired anti-apoptosis ability in pulmonary arterial endothelial cells.

Conclusion We identify BMP9 as an IPAH culprit gene.

Footnotes

This manuscript has recently been accepted for publication in the European Respiratory Journal. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article.

Conflict of interest: Dr. Cheng has nothing to disclose.

Conflict of interest: Dr. Du has nothing to disclose.

Conflict of interest: Dr. Jiang has nothing to disclose.

Conflict of interest: Dr. Jiang has nothing to disclose.

Conflict of interest: Dr. Jing has nothing to disclose.

Conflict of interest: Dr. Liang has nothing to disclose.

Conflict of interest: Dr. Lian has nothing to disclose.

Conflict of interest: Dr. Li has nothing to disclose.

Conflict of interest: Dr. Liu has nothing to disclose.

Conflict of interest: Dr. Mao has nothing to disclose.

Conflict of interest: Dr. Peng has nothing to disclose.

Conflict of interest: Dr. Shyy has nothing to disclose.

Conflict of interest: Dr. Sun has nothing to disclose.

Conflict of interest: Dr. Wang has nothing to disclose.

Conflict of interest: Dr. W-H. Wu has nothing to disclose.

Conflict of interest: Dr. Y. Wu has nothing to disclose.

Conflict of interest: Dr. Xu has nothing to disclose.

Conflict of interest: Jue Ye has nothing to disclose.

Conflict of interest: Dr. Yu has nothing to disclose.

Conflict of interest: Dr. Zhang has nothing to disclose.

Conflict of interest: Dr. Zhang has nothing to disclose.

This is a PDF-only article. Please click on the PDF link above to read it.

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European Respiratory Journal: 61 (2)
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Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension
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Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension
Xiao-Jian Wang, Tian-Yu Lian, Xin Jiang, Shao-Fei Liu, Su-Qi Li, Rong Jiang, Wen-Hui Wu, Jue Ye, Chun-Yan Cheng, Yao Du, Xi-Qi Xu, Yan Wu, Fu-Hua Peng, Kai Sun, Yi-Min Mao, Huan Yu, Chen Liang, John Y-J. Shyy, Shu-Yang Zhang, Xue Zhang, Zhi-Cheng Jing
European Respiratory Journal Jan 2018, 1801609; DOI: 10.1183/13993003.01609-2018

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Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension
Xiao-Jian Wang, Tian-Yu Lian, Xin Jiang, Shao-Fei Liu, Su-Qi Li, Rong Jiang, Wen-Hui Wu, Jue Ye, Chun-Yan Cheng, Yao Du, Xi-Qi Xu, Yan Wu, Fu-Hua Peng, Kai Sun, Yi-Min Mao, Huan Yu, Chen Liang, John Y-J. Shyy, Shu-Yang Zhang, Xue Zhang, Zhi-Cheng Jing
European Respiratory Journal Jan 2018, 1801609; DOI: 10.1183/13993003.01609-2018
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