The features of rare pathogenic BMPR2 variants in pulmonary arterial hypertension: Comparison between patients and reference population.
Journal
International journal of cardiology
ISSN: 1874-1754
Titre abrégé: Int J Cardiol
Pays: Netherlands
ID NLM: 8200291
Informations de publication
Date de publication:
01 Nov 2020
01 Nov 2020
Historique:
received:
24
10
2019
revised:
02
05
2020
accepted:
29
06
2020
pubmed:
8
7
2020
medline:
15
5
2021
entrez:
8
7
2020
Statut:
ppublish
Résumé
Mutations in the gene encoding bone morphogenetic protein receptor type 2 (BMPR2) are the most common genetic risk factors underlying pulmonary arterial hypertension (PAH). However, the features of PAH-related BMPR2 rare variants remain unclear. We propose that the discrepancy of BMPR2 rare variants landscape between patients with PAH and reference population would be important to address the genetic background of PAH-related variants. We genotyped BMPR2 rare variants in 670 Chinese patients with pulmonary arterial hypertension. The BMPR2 rare variants were screened in 10,508 reference people from two exome databases. The prevalence of rare BMPR2 variants in patients with PAH was significantly higher compared to the reference population (21.5%, 144/670 vs 0.87%, 91/10508, p = 1.3 × 10 BMPR2 variants located in extracellular ligand-binding domain or altered the amino acid electric status are more pathogenic.
Sections du résumé
BACKGROUND
BACKGROUND
Mutations in the gene encoding bone morphogenetic protein receptor type 2 (BMPR2) are the most common genetic risk factors underlying pulmonary arterial hypertension (PAH). However, the features of PAH-related BMPR2 rare variants remain unclear. We propose that the discrepancy of BMPR2 rare variants landscape between patients with PAH and reference population would be important to address the genetic background of PAH-related variants.
METHODS
METHODS
We genotyped BMPR2 rare variants in 670 Chinese patients with pulmonary arterial hypertension. The BMPR2 rare variants were screened in 10,508 reference people from two exome databases.
RESULTS
RESULTS
The prevalence of rare BMPR2 variants in patients with PAH was significantly higher compared to the reference population (21.5%, 144/670 vs 0.87%, 91/10508, p = 1.3 × 10
CONCLUSIONS
CONCLUSIONS
BMPR2 variants located in extracellular ligand-binding domain or altered the amino acid electric status are more pathogenic.
Identifiants
pubmed: 32634488
pii: S0167-5273(20)33446-X
doi: 10.1016/j.ijcard.2020.06.068
pii:
doi:
Substances chimiques
BMPR2 protein, human
EC 2.7.11.30
Bone Morphogenetic Protein Receptors, Type II
EC 2.7.11.30
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
138-143Informations de copyright
Copyright © 2020 Elsevier B.V. All rights reserved.