GSE92472

Expression of long non-coding RNAs in autoimmunity and linkage to enhancer function and autoimmune disease risk genetic variants

Whole-study status Exploratory only

Dataset can inform exploration but is not strong enough for primary analysis.

Whole-study downloads — these do not apply your sample requirements.

Selected cohort requirements

Samples meeting selected requirements: 0 cases / 0 controls

View matching samples

Patient pairs verified in indexed sample metadata: 0

A case/control comparison meeting these requirements is not confirmed.

Counts describe samples, not independent patients. Pair verification uses explicit subject identifiers in indexed sample metadata. Zero verified pairs does not establish that the study is unpaired; reported matched-normal design alone is insufficient.

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.

Overall design

We extracted RNA from peripheral whole blood across healthy control and disease subjects.

Source Evidence

4 sources
Source Contribution Status
GEO

Original dataset metadata, sample metadata, source links, and GEO data availability flags.

Sample records
15 GSM samples
Primary source
recount3

Trusted source evidence for processed count availability.

recount3 project ID
srp095209
Available
Expression Atlas

Planned source for curated expression experiment links.

No match found
PubMed

Primary GEO citations and related PubMed articles that mention this dataset.

1 linked publication 1 DOI

Primary publication

  1. Expression of long non-coding RNAs in autoimmunity and linkage to enhancer function and autoimmune disease risk genetic variants. Journal of autoimmunity, 2017
Available

Metadata Quality Components

Analysis Readiness

Review before analysis
76% DE readiness

Contrast completeness

25/25 pts

Both case and control groups are present in the proposed grouping.

Minimum group size

8/20 pts

A contrast exists, but at least one group is below the minimum sample count.

Processed data availability

20/20 pts

Processed data is marked available in the GEO index.

Sample decision clarity

3/15 pts

Unassigned or review-needed samples remain before analysis.

Blocking warnings

10/10 pts

No dataset warnings are present.

Metadata normalization

10/10 pts

Metadata quality is high enough to support downstream handoff.

Blockers

  • At least one contrast group is below the minimum sample count.
  • 10 samples are still unassigned.

Next Steps

  • Resolve unassigned or review-needed samples in the grouping table.

Analysis Preparation Checklist

3/6 ready

Group labels reviewed

Needs review

Siftome proposed case and control labels, but no reviewer confirmation is stored yet.

Open the sample grouping CSV and confirm group labels before analysis.

Minimum sample count met

Blocked

At least one group has fewer than 2 samples.

Choose a larger dataset or merge only scientifically valid groups.

Processed counts available

Ready

Processed data availability is marked true in the GEO index.

Verify that downloaded processed files contain usable count or expression identifiers.

Ambiguous samples handled

Needs review

0 review-needed samples and 10 unassigned samples remain.

Resolve ambiguous and unassigned samples before finalizing the contrast.

Exclusion decisions recorded

Ready

No hard-excluded samples were detected by the current rules.

Record any manual exclusions in the downstream analysis notes.

Source traceability preserved

Ready

The dataset and sample accessions can be traced back to GEO.

Keep GEO accessions with exported metadata.

Bioinformatician Review

Bioinformatician review required

Ask a bioinformatician to review grouping, count availability, exclusions, and design before DE.

Analysis readiness has blockers that must be resolved before DE.

Analysis preparation checklist contains blocked items.

At least one comparison group has fewer than two samples.

One or more samples are unassigned and need manual grouping decisions.

Why This Is Ranked Here

Tumor vs normal
Exploratory only Dataset can inform exploration but is not strong enough for primary analysis.

Applied Review Decisions

No active review decisions affect this ranking.

Derived Classifications

  • Disease context Crohn's disease, lupus erythematosus, sjogren syndrome, systemic lupus erythematosus, ulcerative colitis Disease context came from Normalization rules.
  • Likely case group Ulcerative colitis 4 samples
  • Likely control group Healthy control 1 samples

Intent Interpretation

  • Downgrade or exclusion reason Downgraded for tissue search because it is a biofluid cohort. Derived from current-intent ranking reasons.

Ranking Facts

Supporting evidence

  • Comparison: Patient biofluid vs healthy control. Specimen: Biofluid. Comparison suitability: 20%.
  • Prioritized assay: bulk RNA-seq is the active assay expectation.
  • Interpreted disease metadata: Crohn's disease, Lupus erythematosus, Sjogren syndrome, Systemic lupus erythematosus, Ulcerative colitis.
  • Processed data is available for downstream review.
  • External evidence: recount3 reports trusted processed count availability.
  • External evidence: PubMed links 1 publication; 1 DOI available: PMID 28420548.
  • Publication context: Expression of long non-coding RNAs in autoimmunity and linkage to enhancer function and autoimmune disease risk genetic variants.. Journal of autoimmunity, 2017. PMID 28420548. DOI 10.1016/j.jaut.2017.03.014.

Cautions

  • Downgraded for tissue search because it is a biofluid cohort.
  • Blood, plasma, or serum cohort downgraded because this ranking targets tissue tumor-vs-normal comparisons.
  • Overall score capped because comparison suitability is weak for the selected search intent.
  • Comparison suitability score is below the Phase 1 recommended threshold.

Dataset Warnings

No dataset warnings

Normalized Fields

71 fields

Sample Group Preview

15 rows shown
Show Hide
Study totals: Case 4 | Control 1 | Unassigned 10 | Excluded 0 | Ambiguous 0 15 rows shown
Group Role Accession Title Source / characteristics Reason
Ulcerative colitis Case GSM2430372 Ulcerative colitis Peripheral whole blood draw Type: Ulcerative colitis Case marker detected.
Crohn's disease Case GSM2430373 Crohn's disease Peripheral whole blood draw Type: Crohn's disease Case marker detected.
Systemic lupus erythematosus Case GSM2430383 Systemic lupus erythematosus Peripheral whole blood draw Type: Systemic lupus erythematosus Case marker detected.
Sjogren syndrome Case GSM2430386 Sjogren's syndrome Peripheral whole blood draw Type: Sjogren's syndrome Case marker detected.
Healthy control Control GSM2430380 Healthy control subject Peripheral whole blood draw Type: Healthy control subject Sample-local control marker detected.
Unassigned Unassigned GSM2430374 Irritable bowel syndrome Peripheral whole blood draw Type: Irritable bowel syndrome No explicit case or control marker detected.
Unassigned Unassigned GSM2430375 Celiac disease Peripheral whole blood draw Type: Celiac disease No explicit case or control marker detected.
Unassigned Unassigned GSM2430376 Fibromyalgia syndrome Peripheral whole blood draw Type: Fibromyalgia syndrome No explicit case or control marker detected.
Unassigned Unassigned GSM2430377 CIS-MS Peripheral whole blood draw Type: CIS-MS No explicit case or control marker detected.
Unassigned Unassigned GSM2430378 MS-NAÏVE Peripheral whole blood draw Type: MS-NAIVE No explicit case or control marker detected.
Unassigned Unassigned GSM2430379 MS-EST Peripheral whole blood draw Type: MS-EST No explicit case or control marker detected.
Unassigned Unassigned GSM2430381 RA-MTX (not receiving methotrexate) Peripheral whole blood draw Type: RA-MTX (not receiving methotrexate) No explicit case or control marker detected.
Unassigned Unassigned GSM2430382 RA+MTX (receiving methotrexate) Peripheral whole blood draw Type: RA+MTX (receiving methotrexate) No explicit case or control marker detected.
Unassigned Unassigned GSM2430384 Psoriasis Peripheral whole blood draw Type: Psoriasis No explicit case or control marker detected.
Unassigned Unassigned GSM2430385 Psoriatic arthritis Peripheral whole blood draw Type: Psoriatic arthritis No explicit case or control marker detected.

Use as Discovery Cohort

External Validation Finder

Carry Siftome's disease, organism, specimen, assay, data type, and accession into a validation project. Uncertain fields remain Unknown.