Circulating transcriptome as a signature for the diagnosis of pulmonary arterial hypertension.

Abstract

IntroductionPulmonary Arterial hypertension (PAH) is a rare disease that progressively leads to right heart failure and risk of mortality. However, the diagnosis of PAH in clinic largely depends on hemodynamic data. Circulating transcriptomic profiles have been developed as biomarkers in multiple cardiovascular diseases and thus can be potentially used to detect the signature of PAH. Here we aim to develop a robust approach for the diagnosis and prediction of PAH and its severity by integrate genotype, phenotype, and gene expression data.MethodsWe analyzed 96 peripheral blood mononuclear cell transcriptomes from PAH patients and control cohort. Gene expression analysis was performed using Rsubread, limma, and EdgeR package in R. Variation calling, filtering. The comparison was performed between PAH, idiopathic PAH with control, and different PAH severity groups. GWAS was performed using Samtools, Vcftools, and PLINK.ResultsA total of 72 genes with significant differential expression and 150 genes associated with PAH severity were identified. In addition, 405 of the 4.1 million identified SNPs are associated with PAH.ConclusionCirculating transcriptome can be used to identify genetic signatures for the diagnosis of pulmonary arterial hypertension based on our preliminary results. Once validated in a larger cohort, the identified genes and SNPs can provide a molecular marker system for the PAH diagnosis in addition to hemodynamic data.This abstract is from the Experimental Biology 2018 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.