RT Journal Article
SR Electronic
T1 Leveraging lung tissue transcriptome to uncover candidate causal genes in COPD genetic associations
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 193938
DO 10.1101/193938
A1 Ma’en Obeidat
A1 Maxime Lamontagne
A1 Jean-Christophe Bérubé
A1 Michael H Cho
A1 Brian D. Hobbs
A1 Kim de Jong
A1 H. Marike Boezen
A1 the International COPD Genetics Consortium
A1 David Nickle
A1 Ke Hao
A1 Wim Timens
A1 Maarten van den Berge
A1 Philippe Joubert
A1 Michel Laviolette
A1 Don D Sin
A1 Peter D Paré
A1 Yohan Bossé
YR 2017
UL http://biorxiv.org/content/early/2017/09/26/193938.abstract
AB We collated 129 non-overlapping risk loci for chronic obstructive pulmonary disease (COPD) from the GWAS literature. Using recent and complementary integrative genomics approaches, combining GWAS and lung eQTL results, we identified 12 novel COPD loci and corresponding causal genes. In addition, we mapped candidate causal genes for 60 out of the 129 GWAS-nominated loci as well as for four sub-genome-wide significant COPD risk loci derived from the largest GWAS on COPD. Mapping causal genes in lung tissue represents an important contribution on the genetics of COPD, enriches our biological interpretation of GWAS findings, and brings us closer to clinical translation of genetic associations.