| Literature DB >> 33864768 |
Olivia M de Goede1, Daniel C Nachun2, Nicole M Ferraro3, Michael J Gloudemans3, Abhiram S Rao4, Craig Smail5, Tiffany Y Eulalio3, François Aguet6, Bernard Ng7, Jishu Xu8, Alvaro N Barbeira9, Stephane E Castel10, Sarah Kim-Hellmuth11, YoSon Park12, Alexandra J Scott13, Benjamin J Strober14, Christopher D Brown15, Xiaoquan Wen16, Ira M Hall17, Alexis Battle18, Tuuli Lappalainen10, Hae Kyung Im9, Kristin G Ardlie6, Sara Mostafavi19, Thomas Quertermous20, Karla Kirkegaard21, Stephen B Montgomery22.
Abstract
Long non-coding RNA (lncRNA) genes have well-established and important impacts on molecular and cellular functions. However, among the thousands of lncRNA genes, it is still a major challenge to identify the subset with disease or trait relevance. To systematically characterize these lncRNA genes, we used Genotype Tissue Expression (GTEx) project v8 genetic and multi-tissue transcriptomic data to profile the expression, genetic regulation, cellular contexts, and trait associations of 14,100 lncRNA genes across 49 tissues for 101 distinct complex genetic traits. Using these approaches, we identified 1,432 lncRNA gene-trait associations, 800 of which were not explained by stronger effects of neighboring protein-coding genes. This included associations between lncRNA quantitative trait loci and inflammatory bowel disease, type 1 and type 2 diabetes, and coronary artery disease, as well as rare variant associations to body mass index.Entities:
Keywords: GTEx; co-expression; colocalization; complex trait; disease; eQTL; expression quantitative trait loci; lncRNA; long non-coding RNA
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Year: 2021 PMID： 33864768 PMCID： PMC8651477 DOI： 10.1016/j.cell.2021.03.050
Source DB: PubMed Journal: Cell ISSN： 0092-8674 Impact factor: 66.850