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| Status |
Public on Apr 11, 2017 |
| Title |
Expression of long non-coding RNAs in autoimmunity and linkage to enhancer function and autoimmune disease risk genetic variants |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
Genome-wide association studies have identified numerous genetic variants conferring autoimmune disease risk. Most of these genetic variants lie outside protein-coding genes hampering mechanistic explorations. Numerous mRNAs are also differentially expressed in autoimmune disease but their regulation is also unclear. The majority of the human genome is transcribed yet its biologic significance is incompletely understood. We performed whole genome RNA-sequencing [RNA-seq] to categorize expression of mRNAs, known and novel long non-coding RNAs [lncRNAs] in leukocytes from subjects with autoimmune disease and identified annotated and novel lncRNAs differentially expressed across multiple disorders. We found that loci transcribing novel lncRNAs were not randomly distributed across the genome but co-localized with leukocyte transcriptional enhancers, especially super-enhancers, and near genetic variants associated with autoimmune disease risk. We propose that alterations in enhancer function, including lncRNA expression, produced by genetics and environment, change cellular phenotypes contributing to disease risk and pathogenesis and represent attractive therapeutic targets.
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| Overall design |
We extracted RNA from peripheral whole blood across healthy control and disease subjects.
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| Contributor(s) |
Spurlock CF, Aune TM |
| Citation(s) |
28420548 |
| Submission date |
Dec 15, 2016 |
| Last update date |
Aug 28, 2019 |
| Contact name |
Charles F Spurlock III |
| E-mail(s) |
chase.spurlock@vanderbilt.edu
|
| Phone |
6153432363
|
| Organization name |
Vanderbilt University School of Medicine
|
| Department |
Medicine
|
| Lab |
T3113
|
| Street address |
1161 21st Avenue South
|
| City |
Nashville |
| State/province |
Tennessee |
| ZIP/Postal code |
37232 |
| Country |
USA |
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| Platforms (1) |
| GPL21290 |
Illumina HiSeq 3000 (Homo sapiens) |
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| Samples (15)
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| Relations |
| BioProject |
PRJNA357628 |
| SRA |
SRP095209 |
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