Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease

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, w...

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Main Author: Kellis, Manolis
Other Authors: Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science
Format: Article
Language:English
Published: Elsevier BV 2022
Online Access:https://hdl.handle.net/1721.1/143716
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author Kellis, Manolis
author2 Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science
author_facet Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science
Kellis, Manolis
author_sort Kellis, Manolis
collection MIT
description 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.
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spelling mit-1721.1/1437162023-07-07T20:56:27Z Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease Kellis, Manolis Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory 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. 2022-07-13T16:43:57Z 2022-07-13T16:43:57Z 2021 2022-07-13T16:39:45Z Article http://purl.org/eprint/type/JournalArticle https://hdl.handle.net/1721.1/143716 Kellis, Manolis. 2021. "Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease." Cell, 184 (10). en 10.1016/J.CELL.2021.03.050 Cell Creative Commons Attribution-NonCommercial-NoDerivs License http://creativecommons.org/licenses/by-nc-nd/4.0/ application/pdf Elsevier BV PMC
spellingShingle Kellis, Manolis
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease
title Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease
title_full Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease
title_fullStr Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease
title_full_unstemmed Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease
title_short Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease
title_sort population scale tissue transcriptomics maps long non coding rnas to complex disease
url https://hdl.handle.net/1721.1/143716
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