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

ABSTRACT:

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 ou

SUBMITTER: Wang MT 

PROVIDER: S-EPMC8533654 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature