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Prevalence and clinical features of bone morphogenetic protein receptor type 2 mutation in Korean idiopathic pulmonary arterial hypertension patients: The PILGRIM explorative cohort

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dc.contributor.author장혁재-
dc.date.accessioned2021-01-19T07:50:54Z-
dc.date.available2021-01-19T07:50:54Z-
dc.date.issued2020-09-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/181346-
dc.description.abstractBackground: Pulmonary 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. Methods: We 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. Results: Among 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. Conclusion: The 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 registration: Clinicaltrials.gov NCT01054105.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherPublic Library of Science-
dc.relation.isPartOfPLOS ONE-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.subject.MESHAdult-
dc.subject.MESHBone Morphogenetic Protein Receptors, Type II / genetics*-
dc.subject.MESHCohort Studies-
dc.subject.MESHFemale-
dc.subject.MESHHemodynamics-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHMutation / genetics*-
dc.subject.MESHPrevalence-
dc.subject.MESHPulmonary Arterial Hypertension / epidemiology*-
dc.subject.MESHPulmonary Arterial Hypertension / genetics*-
dc.subject.MESHPulmonary Arterial Hypertension / physiopathology-
dc.subject.MESHRepublic of Korea / epidemiology-
dc.titlePrevalence and clinical features of bone morphogenetic protein receptor type 2 mutation in Korean idiopathic pulmonary arterial hypertension patients: The PILGRIM explorative cohort-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Internal Medicine (내과학교실)-
dc.contributor.googleauthorAlbert Youngwoo Jang-
dc.contributor.googleauthorBo-Gyeong Kim-
dc.contributor.googleauthorSunkoo Kwon-
dc.contributor.googleauthorJiyoung Seo-
dc.contributor.googleauthorHyung Kwan Kim-
dc.contributor.googleauthorHyuk-Jae Chang-
dc.contributor.googleauthorSung-A Chang-
dc.contributor.googleauthorGoo-Yeong Cho-
dc.contributor.googleauthorSang Jae Rhee-
dc.contributor.googleauthorHae Ok Jung-
dc.contributor.googleauthorKyung-Hee Kim-
dc.contributor.googleauthorHye Sun Seo-
dc.contributor.googleauthorKye Hun Kim-
dc.contributor.googleauthorJinho Shin-
dc.contributor.googleauthorJun Soo Lee-
dc.contributor.googleauthorMinsu Kim-
dc.contributor.googleauthorYoung Jae Lee-
dc.contributor.googleauthorWook-Jin Chung-
dc.identifier.doi10.1371/journal.pone.0238698-
dc.contributor.localIdA03490-
dc.relation.journalcodeJ02540-
dc.identifier.eissn1932-6203-
dc.identifier.pmid32966279-
dc.contributor.alternativeNameChang, Hyuck Jae-
dc.contributor.affiliatedAuthor장혁재-
dc.citation.volume15-
dc.citation.number9-
dc.citation.startPagee0238698-
dc.identifier.bibliographicCitationPLOS ONE, Vol.15(9) : e0238698, 2020-09-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers

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