ArticlePloS one2020
Prevalence and clinical features of bone morphogenetic protein receptor type 2 mutation in Korean idiopathic pulmonary arterial hypertension patients: The PILGRIM explorative cohort.
Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01054105 (The Prevalence of BMPR-2 Gene Mutations in Korean Patients With Pulmonary Arterial Hypertension), which is not on this map. Cited by 11 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
The Prevalence of BMPR-2 Gene Mutations in Korean Patients With Pulmonary Arterial Hypertension (PAH) and the Effects of Gene Mutations on Hemodynamic Response by Drug Therapy
Who cites it
11 citing papers in PubMed, 2 syntheses or guidelines pooled it, 17 citations in OpenAlex.
- The prevalence of pathogenic variants in the BMPR2 gene in patients with the idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis.Respiratory research · 2025Pooled it
- Impact of BMPR2 mutation on the severity of pulmonary arterial hypertension: a systematic review and meta-analysis.Respiratory research · 2025Pooled it
- Performance of Risk-Stratification Scores for Patients With Pulmonary Arterial Hypertension in a Multi-Ethnic Asian Population.Pulmonary circulation · 2025Article
- Hemodynamic and Genetic Associations with the Risk of Idiopathic Pulmonary Arterial Hypertension Development in an Ethnic Cohort of Kazakhs.Diagnostics (Basel, Switzerland) · 2024Article
- Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants.International journal of molecular sciences · 2024Article
- Epidemiology of PAH in Korea: An Analysis of the National Health Insurance Data, 2002-2018.Korean circulation journal · 2023Article
- Review
- Stem Cell and Exosome Therapy in Pulmonary Hypertension.Korean circulation journal · 2022Review
- 2020 KSC/KATRD Guideline for the Diagnosis and Treatment of Pulmonary Hypertension: Executive Summary.Tuberculosis and respiratory diseases · 2022Review
- Whole Exome Sequencing of Patients With Heritable and Idiopathic Pulmonary Arterial Hypertension in Central Taiwan.Frontiers in cardiovascular medicine · 2022Article
- Pulmonary Hypertension in Heart Failure.International journal of heart failure · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 11 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPulmonary arterial hypertension (PAH) is a progressive chronic disease with poor outcomes. One reason for poor prognosis is the lack of understanding regarding individual variability in response to treatment. Idiopathic PAH (IPAH) patients with bone morphogenetic protein receptor type 2 (BMPR2) mutations have distinct phenotypes that are crucial for individualized therapy but evidence regarding their prevalence and clinical features in the Korean population is lacking. Therefore, the present study aimed to screen Korean IPAH patients for BMPR2 mutations and analyze their clinical phenotypes.
methodsWe enrolled 73 unrelated IPAH patients for BMPR2 mutation screening between March 2010 to November 2015 from 11 hospitals in Korea. Thirty-three lineal family members from 6 families of BMPR2 mutation carriers were also screened.
resultsAmong 73 patients, 16 (22%) had BMPR2 mutations. Mutation carriers were younger (27 vs. 47 years; p = 0.02) and had a higher mean pulmonary arterial pressure (mPAP) than non-carriers (64 vs. 51 mmHg; p<0.05). Of the 16 individuals with mutations, 5 deletion, 2 splice-site, 6 nonsense, and 3 missense mutations were found, among which, 9 were newly identified mutation types. Patients less than 30 years old had more BMPR2 mutations (44 vs. 14%; p = 0.04) and a higher mPAP (64 vs. 50 mmHg; p = 0.04) compared with those equaled to or over 30 years old. There were no differences in hemodynamic profiles or the proportion of BMPR2 mutation carriers between groups according to sex.
conclusionThe prevalence of BMPR2 mutations in Korean IPAH patients was 22%. Mutation carriers were younger and had a poorer hemodynamic profile compared with the non-carriers. CLINICAL
trial registrationClinicaltrials.gov NCT01054105.
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