Gene Mutation Annotation and Pedigree for Pulmonary Arterial Hypertension Patients in Han Chinese Patients

Background: The etiology of pulmonary arterial hypertension (PAH) in the Han Chinese population is poorly understood. Objectives: The aim of this study was to assess gene variants and associated functional annotations for PAH in Han Chinese patients. Methods: This is an ethnicity-based multi-centre...

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Autores principales:	Mei-Tzu Wang, Ming-Ji Charng, Pei-Ling Chi, Chin-Chang Cheng, Cheng Chung Hung, Wei-Chun Huang
Formato:	article
Lenguaje:	EN
Publicado:	Ubiquity Press 2021
Materias:	clinvar database david database gene annotation gene mutation pulmonary arterial hypertension heritable pulmonary arterial hypertension Diseases of the circulatory (Cardiovascular) system RC666-701 Public aspects of medicine RA1-1270
Acceso en línea:	https://doaj.org/article/a550bd145b9e498ea5eebc61c6a0b72c
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spelling	oai:doaj.org-article:a550bd145b9e498ea5eebc61c6a0b72c2021-11-08T08:07:54ZGene Mutation Annotation and Pedigree for Pulmonary Arterial Hypertension Patients in Han Chinese Patients2211-817910.5334/gh.1002https://doaj.org/article/a550bd145b9e498ea5eebc61c6a0b72c2021-10-01T00:00:00Zhttps://globalheartjournal.com/articles/1002https://doaj.org/toc/2211-8179Background: The etiology of pulmonary arterial hypertension (PAH) in the Han Chinese population is poorly understood. Objectives: The aim of this study was to assess gene variants and associated functional annotations for PAH in Han Chinese patients. Methods: This is an ethnicity-based multi-centre study. Blood samples were collected from 20 PAH patients who volunteered for the study, and genetic tests were performed. The DAVID database was used to functionally annotate the genes 'BMPR2, ALK1, KCNK3, CAV1', and 'ENG'. Associated diseases, functional categories, gene ontology, and protein interactions were analysed using the Functional Annotation Tool in the DAVID database. GEO and ClinVar databases were also used for further comparison with gene mutations in our study. Results: PAH patient with gene mutations were female predominant except for a single male with a 'BMPR2' mutation. Locus variants in our study included ‘G410DfsX1’ in BMPR2, ‘ex7 L300P,’ ‘ex4 S110PfsX40,’ and ‘ex7 E295Afs96X’ in 'ALK1', ‘c.-2C>A (IVS1–2 C>A)’ in 'CAV1', and ‘ex8 D366H’ in ENG were not found in the ClinVar database associated with PAH. In addition to BMP and TGF-β pathways, gene ontology of input genes in the DAVID database also included pathways associated with nitric oxide signaling and regulation. Conclusions: This Multi-centre study indicated that ‘G410DfsX1’ in BMPR2, ‘ex7 L300P,’ ‘ex4 S110PfsX40,’ ‘ex7 E295Afs96X’ in 'ALK1', ‘c.-2C>A (IVS1–2 C>A)’ in 'CAV1', and ‘ex8 D366H’ in ENG were identified in Han Chinese patients with PAH. Females were more susceptible to PAH, and a relatively young age distribution was observed for patients with 'BMPR2' mutations.Mei-Tzu WangMing-Ji CharngPei-Ling ChiChin-Chang ChengCheng Chung HungWei-Chun HuangUbiquity Pressarticleclinvar databasedavid databasegene annotationgene mutationpulmonary arterial hypertensionheritable pulmonary arterial hypertensionDiseases of the circulatory (Cardiovascular) systemRC666-701Public aspects of medicineRA1-1270ENGlobal Heart, Vol 16, Iss 1 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	clinvar database david database gene annotation gene mutation pulmonary arterial hypertension heritable pulmonary arterial hypertension Diseases of the circulatory (Cardiovascular) system RC666-701 Public aspects of medicine RA1-1270
spellingShingle	clinvar database david database gene annotation gene mutation pulmonary arterial hypertension heritable pulmonary arterial hypertension Diseases of the circulatory (Cardiovascular) system RC666-701 Public aspects of medicine RA1-1270 Mei-Tzu Wang Ming-Ji Charng Pei-Ling Chi Chin-Chang Cheng Cheng Chung Hung Wei-Chun Huang Gene Mutation Annotation and Pedigree for Pulmonary Arterial Hypertension Patients in Han Chinese Patients
description	Background: The etiology of pulmonary arterial hypertension (PAH) in the Han Chinese population is poorly understood. Objectives: The aim of this study was to assess gene variants and associated functional annotations for PAH in Han Chinese patients. Methods: This is an ethnicity-based multi-centre study. Blood samples were collected from 20 PAH patients who volunteered for the study, and genetic tests were performed. The DAVID database was used to functionally annotate the genes 'BMPR2, ALK1, KCNK3, CAV1', and 'ENG'. Associated diseases, functional categories, gene ontology, and protein interactions were analysed using the Functional Annotation Tool in the DAVID database. GEO and ClinVar databases were also used for further comparison with gene mutations in our study. Results: PAH patient with gene mutations were female predominant except for a single male with a 'BMPR2' mutation. Locus variants in our study included ‘G410DfsX1’ in BMPR2, ‘ex7 L300P,’ ‘ex4 S110PfsX40,’ and ‘ex7 E295Afs96X’ in 'ALK1', ‘c.-2C>A (IVS1–2 C>A)’ in 'CAV1', and ‘ex8 D366H’ in ENG were not found in the ClinVar database associated with PAH. In addition to BMP and TGF-β pathways, gene ontology of input genes in the DAVID database also included pathways associated with nitric oxide signaling and regulation. Conclusions: This Multi-centre study indicated that ‘G410DfsX1’ in BMPR2, ‘ex7 L300P,’ ‘ex4 S110PfsX40,’ ‘ex7 E295Afs96X’ in 'ALK1', ‘c.-2C>A (IVS1–2 C>A)’ in 'CAV1', and ‘ex8 D366H’ in ENG were identified in Han Chinese patients with PAH. Females were more susceptible to PAH, and a relatively young age distribution was observed for patients with 'BMPR2' mutations.
format	article
author	Mei-Tzu Wang Ming-Ji Charng Pei-Ling Chi Chin-Chang Cheng Cheng Chung Hung Wei-Chun Huang
author_facet	Mei-Tzu Wang Ming-Ji Charng Pei-Ling Chi Chin-Chang Cheng Cheng Chung Hung Wei-Chun Huang
author_sort	Mei-Tzu Wang
title	Gene Mutation Annotation and Pedigree for Pulmonary Arterial Hypertension Patients in Han Chinese Patients
title_short	Gene Mutation Annotation and Pedigree for Pulmonary Arterial Hypertension Patients in Han Chinese Patients
title_full	Gene Mutation Annotation and Pedigree for Pulmonary Arterial Hypertension Patients in Han Chinese Patients
title_fullStr	Gene Mutation Annotation and Pedigree for Pulmonary Arterial Hypertension Patients in Han Chinese Patients
title_full_unstemmed	Gene Mutation Annotation and Pedigree for Pulmonary Arterial Hypertension Patients in Han Chinese Patients
title_sort	gene mutation annotation and pedigree for pulmonary arterial hypertension patients in han chinese patients
publisher	Ubiquity Press
publishDate	2021
url	https://doaj.org/article/a550bd145b9e498ea5eebc61c6a0b72c
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Gene Mutation Annotation and Pedigree for Pulmonary Arterial Hypertension Patients in Han Chinese Patients

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