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Pulmonary Hypertension: Classification and Pathogenesis

Pulmonary Hypertension: Classification and Pathogenesis

Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...

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Updated: Dec 3, 2025

Hemodynamic Characterization of Rodent Models of Pulmonary Arterial Hypertension

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Published on: April 11, 2016

Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension.

Anna Ulrich¹, Pablo Otero-Núñez¹, John Wharton¹

¹National Heart and Lung Institute, Hammersmith Campus, Imperial College London, London SW7 2BU, UK.

|October 27, 2020

Summary

This study identified novel expression quantitative trait loci (eQTL) in pulmonary arterial hypertension (PAH) patients, revealing immune-related processes and offering insights into genetic risk factors for PAH and similar diseases.

Keywords:

blood eQTL expression quantitative trait locus genetics pulmonary arterial hypertension

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Last Updated: Dec 3, 2025

Hemodynamic Characterization of Rodent Models of Pulmonary Arterial Hypertension

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Published on: April 11, 2016

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Published on: June 27, 2025

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Published on: January 16, 2013

Area of Science:

Genomics
Molecular Biology
Cardiovascular Research

Background:

Expression quantitative trait loci (eQTL) link genetic variants to gene expression, aiding disease biology understanding.
Previous eQTL studies predominantly used healthy populations, potentially missing disease-specific genetic effects.
Genetic influences on gene expression can be context-dependent, varying with disease states and environmental factors.

Purpose of the Study:

To conduct a genome-wide eQTL mapping in pulmonary arterial hypertension (PAH) patients.
To identify novel eQTL specific to PAH by comparing with existing population-based eQTL data.
To explore the biological relevance of PAH-specific eQTL, particularly immune-related pathways.

Main Methods:

Transcriptome-wide and genome-wide eQTL analysis using RNA sequencing data from whole blood of PAH patients.
Comparison and validation of identified eQTL against data from GTEx and other population-based eQTL studies.
Functional enrichment analysis of genes associated with novel eQTL in the PAH cohort.

Main Results:

Identified 2314 eQTL in PAH patients, with 90% being cis-acting.
75% of identified eQTL were confirmed by existing population-based studies.
Novel eQTL in PAH showed a higher colocalization rate for lung-related phenotypes and were enriched for immune-related processes.

Conclusions:

Novel eQTL identified in PAH patients provide biological insights into the disease, particularly involving immune mechanisms.
These PAH-specific eQTL can enhance understanding of genetic risk factors in PAH and potentially other diseases with shared pathways.
eQTL analysis in disease-specific cohorts is crucial for uncovering context-specific genetic effects.