Journal
CELL
Volume 184, Issue 10, Pages 2633-+Publisher
CELL PRESS
DOI: 10.1016/j.cell.2021.03.050
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Funding
- Common Fund of the Office of the Director of the National Institutes of Health (NIH)
- National Cancer Institute
- National Human Genome Research Institute (NHGRI)
- National Heart, Lung, and Blood Institute (NHLBI)
- National Institute on Drug Abuse (NIDA)
- National Institute of Mental Health
- National Institute of Neurological Disorders and Stroke
- Stanford graduate fellowship
- Bio-X Stanford interdisciplinary graduate fellowship
- National Science Foundation graduate research fellowship
- NHLBI [R01HL135313-01, HHSN268201000029C]
- National Library of Medicine (NLM) training grant [5T15LM007033-36]
- NHGRI [5U41HG009494]
- NIH [R01GM122924, 1K99HG009916-01, R01HG010067, R01MH109905, R01MH101822, R01MH106842, R01HL142028, UM1HG008901, R01GM124486, R01MH107666, P30DK020595, R01HL109512, R01HL134817, R33HL120757, R01HL139478, R01MH101814, R01HG008150, R01AG066490]
- Marie-Sklodowska Curie fellowship H2020 grant [706636]
- Mr. and Mrs. Spencer T. Olin fellowship for women in graduate study
- Searle Scholar Program
- Chan Zuckerberg Foundation-Human Cell Atlas Initiative
- Stanford University School of Medicine
- The NIH [R01HL142015, U01HG009431, U01HG009080]
- Marie Curie Actions (MSCA) [706636] Funding Source: Marie Curie Actions (MSCA)
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This study systematically characterized 14,100 lncRNA genes across 49 tissues for 101 complex genetic traits using GTEx project data, identifying 1,432 lncRNA gene-trait associations, 800 of which were not explained by neighboring protein-coding genes. The findings revealed associations between lncRNA and various diseases and traits.
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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