Imperial College London
Portrait Picture

Professor Martin Wilkins

Faculty of Medicine, National Heart & Lung Institute

Professor of Clinical Pharmacology
 
 
 
//

Contact

 

+44 (0)20 3313 6101m.wilkins Website

 
 
//

Assistant

 

Mrs Elizabeth O'Brien +44 (0)20 3313 6101

 
//

Location

 

NIHR Imperial Clinical Research FacilityICTEM buildingHammersmith Campus

//

Summary

 

Publications

Citation

BibTex format

@article{Ulrich:2020:10.3390/genes11111247,
author = {Ulrich, A and Otero-Núñez, P and Wharton, J and Swietlik, E and Graf, S and Morrell, N and Wang, D and Lawrie, A and Wilkins, M and Prokopenko, I and Rhodes, C and on, behalf of The NIHR BioResourceRare Diseases Consortium and and, UK PAH Cohort Study Consortium},
doi = {10.3390/genes11111247},
journal = {Genes},
title = {Expression quantitative trait locus mapping in pulmonary arterial hypertension},
url = {http://dx.doi.org/10.3390/genes11111247},
volume = {11},
year = {2020}
}
Download

RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Expression quantitative trait loci (eQTL) can provide a link between disease susceptibility variants discovered by genetic association studies and biology. 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.
AU  - Ulrich,A
AU  - Otero-Núñez,P
AU  - Wharton,J
AU  - Swietlik,E
AU  - Graf,S
AU  - Morrell,N
AU  - Wang,D
AU  - Lawrie,A
AU  - Wilkins,M
AU  - Prokopenko,I
AU  - Rhodes,C
AU  - on,behalf of The NIHR BioResourceRare Diseases Consortium
AU  - and,UK PAH Cohort Study Consortium
DO  - 10.3390/genes11111247
PY  - 2020///
SN  - 2073-4425
TI  - Expression quantitative trait locus mapping in pulmonary arterial hypertension
T2  - Genes
UR  - http://dx.doi.org/10.3390/genes11111247
UR  - http://hdl.handle.net/10044/1/84938
VL  - 11
ER  -
Download