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To date, eQTL mapping studies have been primarily conducted in healthy individuals from population-based cohorts. Genetic effects have been known to be context-specific and vary with changing environmental stimuli. We conducted a transcriptome- and genome-wide eQTL mapping study in a cohort of patients with idiopathic or heritable pulmonary arterial hypertension (PAH) using RNA sequencing (RNAseq) data from whole blood. We sought confirmation from three published population-based eQTL studies, including the GTEx Project, and followed up potentially novel eQTL not observed in the general population. In total, we identified 2314 eQTL of which 90% were cis-acting and 75% were confirmed by at least one of the published studies. While we observed a higher GWAS trait colocalization rate among confirmed eQTL, colocalisation rate of novel eQTL reported for lung-related phenotypes was twice as high as that of confirmed eQTL. Functional enrichment analysis of genes with novel eQTL in PAH highlighted immune-related processes, a suspected contributor to PAH. These potentially novel eQTL specific to or active in PAH could be useful in understanding genetic risk factors for other diseases that share common mechanisms with PAH.<\/jats:p>","DOI":"10.3390\/genes11111247","type":"journal-article","created":{"date-parts":[[2020,10,22]],"date-time":"2020-10-22T20:51:00Z","timestamp":1603399860000},"page":"1247","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3280-9974","authenticated-orcid":false,"given":"Anna","family":"Ulrich","sequence":"first","affiliation":[{"name":"National Heart and Lung Institute, Hammersmith Campus, Imperial College London, London SW7 2BU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Otero-N\u00fa\u00f1ez","sequence":"additional","affiliation":[{"name":"National Heart and Lung Institute, Hammersmith Campus, Imperial College London, London SW7 2BU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Wharton","sequence":"additional","affiliation":[{"name":"National Heart and Lung Institute, Hammersmith Campus, Imperial College London, London SW7 2BU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia M.","family":"Swietlik","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Cambridge, Cambridge CB2 3AX, UK"},{"name":"Pulmonary Vascular Disease Unit, Royal Papworth Hospital NHS Foundation Trust, Cambridge CB2 0AY, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1315-8873","authenticated-orcid":false,"given":"Stefan","family":"Gr\u00e4f","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Cambridge, Cambridge CB2 3AX, UK"},{"name":"NIHR BioResource-Rare Diseases, Cambridge, CB2 0QQ, UK"},{"name":"Department of Haematology, University of Cambridge, Cambridge CB2 3AX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas W.","family":"Morrell","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Cambridge, Cambridge CB2 3AX, UK"},{"name":"NIHR BioResource-Rare Diseases, Cambridge, CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0068-1005","authenticated-orcid":false,"given":"Dennis","family":"Wang","sequence":"additional","affiliation":[{"name":"Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield S10 2TN, UK"},{"name":"Sheffield Bioinformatics Core, University of Sheffield, Sheffield S10 2TN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4192-9505","authenticated-orcid":false,"given":"Allan","family":"Lawrie","sequence":"additional","affiliation":[{"name":"Department of Infection, Immunity & Cardiovascular Disease, University of Sheffield, Sheffield S10 2TN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin R.","family":"Wilkins","sequence":"additional","affiliation":[{"name":"National Heart and Lung Institute, Hammersmith Campus, Imperial College London, London SW7 2BU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1624-7457","authenticated-orcid":false,"given":"Inga","family":"Prokopenko","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, University of Surrey, Guildford GU2 7XH, UK"},{"name":"Department of Metabolism, Digestion and Reproduction, Imperial College London, London SW7 2BU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher J.","family":"Rhodes","sequence":"additional","affiliation":[{"name":"National Heart and Lung Institute, Hammersmith Campus, Imperial College London, London SW7 2BU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"on behalf of The NIHR BioResource\u2014Rare Diseases Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"UK PAH Cohort Study Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,10,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.1126\/science.1222794","article-title":"Systematic localization of common disease-associated variation in 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