Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension

Hisato Suzuki; Masaharu Kataoka; Takahiro Hiraide; Yuki Aimi; Yoshitake Yamada; Yoshinori Katsumata; Tomohiro Chiba; Kohsuke Kanekura; Sarasa Isobe; Yasunori Sato; Toru Satoh; Shinobu Gamou; Keiichi Fukuda; Kenjiro Kosaki

doi:10.1161/CIRCGEN.118.002317

Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension

Circ Genom Precis Med. 2018 Dec;11(12):e002317. doi: 10.1161/CIRCGEN.118.002317.

Authors

Affiliations

¹ Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan (H.S., K. Kosaki).
² Department of Cardiology, Keio University School of Medicine, Tokyo, Japan (M.K., T.H., Y.K., S.I., S.G., K.F.).
³ Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan (Y.A., T.S.).
⁴ Department of Diagnostic Radiology, Keio University School of Medicine, Tokyo, Japan (Y.Y.).
⁵ Department of Pathology, Kyorin University School of Medicine, Tokyo, Japan (T.C.).
⁶ Department of Molecular Pathology, Tokyo Medical University, Japan (K. Kanekura).
⁷ Department of Preventive Medicine and Public Health, Biostatistics Unit at Clinical and Translational Research Center, Keio University School of Medicine, Tokyo, Japan (Y.S.).

PMID: 30562119
DOI: 10.1161/CIRCGEN.118.002317

No abstract available

Keywords: Bone Morphogenetic Protein Receptors; Hypertension; Pulmonary Artery Whole Exome Sequencing; Pulmonary Moyamoya Disease RING Finger Domains Stenosis; Type II Genetic Association Studies.

Publication types

Letter

MeSH terms

Adenosine Triphosphatases / genetics*
Adult
Alleles
Blood Pressure
Cohort Studies
Exome Sequencing
Female
Genetic Predisposition to Disease
Genomics
Humans
Hypertension, Pulmonary / genetics*
Hypertension, Pulmonary / physiopathology
Japan
Male
Middle Aged
Pedigree
Pulmonary Artery
Ubiquitin-Protein Ligases / genetics*

Substances

RNF213 protein, human
Ubiquitin-Protein Ligases
Adenosine Triphosphatases