@article{c83c3e15dc904309a4429a8be74839ed,
title = "Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease",
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.",
keywords = "GTEx, co-expression, colocalization, complex trait, disease, eQTL, expression quantitative trait loci, lncRNA, long non-coding RNA",
author = "{GTEx Consortium} and {de Goede}, {Olivia M.} and Nachun, {Daniel C.} and Ferraro, {Nicole M.} and Gloudemans, {Michael J.} and Rao, {Abhiram S.} and Craig Smail and Eulalio, {Tiffany Y.} and Fran{\c c}ois Aguet and Bernard Ng and Jishu Xu and Barbeira, {Alvaro N.} and Castel, {Stephane E.} and Sarah Kim-Hellmuth and Park, {Yo Son} and Scott, {Alexandra J.} and Strober, {Benjamin J.} and Shankara Anand and Stacey Gabriel and Getz, {Gad A.} and Aaron Graubert and Kane Hadley and Handsaker, {Robert E.} and Huang, {Katherine H.} and Xiao Li and MacArthur, {Daniel G.} and Meier, {Samuel R.} and Nedzel, {Jared L.} and Nguyen, {Duyen T.} and Segr{\`e}, {Ayellet V.} and Ellen Todres and Brunilda Balliu and Rodrigo Bonazzola and Andrew Brown and Conrad, {Donald F.} and Cotter, {Daniel J.} and Nancy Cox and Sayantan Das and Dermitzakis, {Emmanouil T.} and Jonah Einson and Engelhardt, {Barbara E.} and Eleazar Eskin and Flynn, {Elise D.} and Laure Fresard and Gamazon, {Eric R.} and Diego Garrido-Mart{\'i}n and Gay, {Nicole R.} and Roderic Guig{\'o} and Hamel, {Andrew R.} and Yuan He and Esti Yeger-Lotem",
note = "Publisher Copyright: {\textcopyright} 2021 Elsevier Inc.",
year = "2021",
month = may,
day = "13",
doi = "10.1016/j.cell.2021.03.050",
language = "English",
volume = "184",
pages = "2633--2648.e19",
journal = "Cell",
issn = "0092-8674",
publisher = "Cell Press",
number = "10",
}
