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KMID : 1143420210140201326
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Public Health Weekly Report
2021 Volume.14 No. 20 p.1326 ~ p.1337
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Pulmonary hypertension (PH) platform for deep phenotyping in Korean subjects (PHOENIKS) cohort and discovery Korean specific biomarkers for PH
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Kim Min-Su
Moon Eun-Kyung
You Mi-Ju
Jang Albert Young-Woo
Ahn Kyung-Jin
Hyun Gyeong-Lim
Oh Se-Yeon
Byun Kyung-Hee
Chung Wook-Jin
Kim Seung-Woo
Hong Jung-Yeon
Lee Seung-Hee
Kim Won-Ho
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Abstract
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Pulmonary arterial hypertension (PAH) is a rare and fatal disease resulting from several causes including heterogeneous
genetic defects. Despite the development of various treatments, it is still impossible to cure, and the average survival rate is 7.4 years. Although the lethality for PAH is very high, in Korea, only the prevalence rate, survival rate within 3 years and the relationship between the prevalence of BMPR2 gene mutants and Korean Idiopathic PAH (IPAH) have been identified
through PAH registration project. With increasing interest in personalized medicine, the “biomarker” market for PAH is
growing rapidly. In this situation, in order to enhance international competitiveness, we should induce the diversification of
therapeutic target candidates by discovering new biomarkers, and produce basic data necessary for new drug development. For these reasons, not only clinical data on deep phenotyping but also biological specimens in patients with PAH are required. In the field of translational research in PAH, where there is no research using biological specimens to date, the long-term cohort research platform for Korean PAH (PHOENIKS) ordered by The Korea National Institute of Health, Korea Disease Control and Prevention Agency (KDCA) was designed to collect human samples for deep phenotyping in patients with PAH and to build a database of patients with PAH in Korea. In this project, we obtained basic data and human samples of 102 patients with primary and secondary PAH for about 3 years from 2018 to 2020. Throughout this research, we collected the clinical data of not only patients with inherited pulmonary arterial hypertension but also of patients with connective tissue disease, congenital heart disease, and portopulmonary hypertension, which belong to the accompanying diseases and secured an efficient follow-up observation system through a multi-center research network. From these processes, we discovered the therapeutic targets by investigating causes and pathophysiology of PAH and produced basic data necessary for the development of effective new drugs.
In the second project (from 2021 to 2023) of a follow-up study, we are planning to research an additional deep phenotyping
study of group 2 pulmonary hypertension patients and have already begun analyzing genomes and proteomics to discover
Korean-specific diagnostic biomarkers and new therapeutic targets.
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KEYWORD
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Pulmonary hypertension, Deep phenotyping, Blood bank, Registries, Precision medicine
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