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Leveraging lung tissue transcriptome to uncover candidate causal genes in COPD genetic associations

By Ma'en Obeidat, Maxime Lamontagne, Jean-Christophe Bérubé, Michael Cho, Brian D. Hobbs, Kim de Jong, H. Marike Boezen, the International COPD Genetics Consortium, David Nickle, Ke Hao, Wim Timens, Maarten van den Berge, Philippe Joubert, Michel Laviolette, Don D. Sin, Peter D. Paré, Yohan Bossé

Posted 26 Sep 2017
bioRxiv DOI: 10.1101/193938 (published DOI: 10.1093/hmg/ddy091)

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.

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