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Blood DNA methylation profiling identifies cathepsin Z dysregulation in pulmonary arterial hypertension

6 Jan 2024

Abstract excerpt

Abstract Pulmonary arterial hypertension (PAH) is characterised by pulmonary vascular remodelling causing premature death from right heart failure. Established DNA variants influence PAH risk, but susceptibility from epigenetic changes is unknown. We addressed this through epigenome-wide association study (EWAS), testing 865,848 CpG sites for association with PAH in 429 individuals with PAH and 1226 controls....

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PMID: 38184627
DOI: 10.1038/s41467-023-44683-0

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