Identification of the Novel Variants in Patients With Chronic Thromboembolic Pulmonary Hypertension.
Acute Disease
Aged
Aged, 80 and over
Asian People
/ genetics
Carboxypeptidase B2
/ genetics
Chronic Disease
Factor V
/ genetics
Female
Gene Frequency
/ genetics
Genetic Variation
/ genetics
Humans
Hypertension, Pulmonary
/ complications
Japan
Male
Middle Aged
Pulmonary Embolism
/ complications
Thrombomodulin
/ genetics
Exome Sequencing
chronic thromboembolic pulmonary hypertension
gene variants
pulmonary hypertension
Journal
Journal of the American Heart Association
ISSN: 2047-9980
Titre abrégé: J Am Heart Assoc
Pays: England
ID NLM: 101580524
Informations de publication
Date de publication:
03 11 2020
03 11 2020
Historique:
pubmed:
27
10
2020
medline:
27
3
2021
entrez:
26
10
2020
Statut:
ppublish
Résumé
Background Although chronic thromboembolic pulmonary hypertension (CTEPH) and acute pulmonary embolism (APE) share some clinical manifestations, a limited proportion of patients with CTEPH have a history of APE. Moreover, in histopathologic studies, it has been revealed that pulmonary vasculature lesions similar to pulmonary arterial hypertension existed in patients with CTEPH. Thus, it remains unknown whether these 3 disorders also share genetic backgrounds. Methods and Results Whole exome screening was performed with DNA isolated from 51 unrelated patients with CTEPH of Japanese ancestry. The frequency of genetic variants associated with pulmonary arterial hypertension or APE in patients with CTEPH was compared with those in the integrative Japanese Genome Variation Database 3.5KJPN. Whole exome screening analysis showed 17 049 nonsynonymous variants in patients with CTEPH. Although we found 6 nonsynonymous variants that are associated with APE in patients with CTEPH, there was no nonsynonymous variant associated with pulmonary arterial hypertension. Patients with CTEPH with a history of APE had nonsynonymous variants of
Identifiants
pubmed: 33103541
doi: 10.1161/JAHA.120.015902
pmc: PMC7763425
doi:
Substances chimiques
THBD protein, human
0
Thrombomodulin
0
Factor V
9001-24-5
CPB2 protein, human
EC 3.4.17.20
Carboxypeptidase B2
EC 3.4.17.20
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
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