Whole-Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome.

ABSTRACT: Rationale: Idiopathic and heritable pulmonary arterial hypertension (PAH) are rare but comprise a genetically heterogeneous patient group. RNA sequencing linked to the underlying genetic architecture can be used to better understand the underlying pathology by identifying key signaling pathways and stratify patients more robustly according to clinical risk.Objectives: To use a three-stage design of RNA discovery, RNA validation and model construction, and model validation to define a set of PAH-associated RNAs and a single summarizing RNA model score. To define genes most likely to be involved in disease development, we performed Mendelian randomization (MR) analysis.Methods: RNA sequencing was performed on whole-blood samples from 359 patients with idiopathic, heritab

SUBMITTER: Rhodes CJ 

PROVIDER: S-EPMC7427383 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature