GSE22619

Genome wide expression data from discordant twins (ulcerative colitis, primary mucosal tissue)

Whole-study status Not suitable

Dataset does not meet the current suitability threshold.

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

Selected cohort requirements

Samples meeting selected requirements: 0 cases / 0 controls

View matching samples

10 case / 2 control samples elsewhere in the study have incomplete or conflicting evidence; they are not included above

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

Background and aims. The etiopathology of inflammatory bowel diseases is still poorly understood. To date, only few little data are available on the microbiota composition in ulcerative colitis (UC), representing a major subform of inflammatory bowel diseases. Currently, one of the main challenges is to unravel the interactions between genetics and environmental factors in the onset or during the progression and maintenance of the disease. The aim of the present study was to analyse twin pairs discordant for UC for both gut microbiota dysbiosis and host expression profiles at a mucosal level and to get insight into the functional genomic crosstalk between microbiota and mucosal epithelium in vivo. Methods. Biopsies were sampled from the sigmoid colon of both healthy and diseased siblings from UC discordant twin pairs but also from healthy twins. Microbiota profiles were assessed by 16S rDNA libraries while mRNA expression profiles were analysed from the same volunteers using Affymetrix microarrays. Results. UC patients showed a dysbiotic microbiota with lower diversity and more species belonging to Actinobacteria and Proteobacteria phyla. On the contrary, their healthy siblings’ microbiota contained more bacteria from the Lachnospiracea and Ruminococcaceae family than did healthy individuals . Sixty-three host transcripts significantly correlated with bacterial genera in healthy individuals whereas only 43 and 32 correlated with bacteria in healthy and UC siblings from discordant pairs, respectively. Several transcripts related to oxidative and immune responses were differentially expressed between unaffected and UC siblings. Conclusion. A loss of crosstalk between gut microbiota and host was highlighted in UC patients. This defect was also striking in healthy siblings from discordant pairs, as was the lower biodiversity within the microbiota. Our results suggest disease-relevant interactions between host transcriptome and microbiota. Moreover, unusual aerobic bacteria were noticed in UC mucosal microbiota, whereas healthy siblings from discordant pairs had higher percentages of potentially beneficialusual commensal bacterial species.

Overall design

Paired samples (twins) were analyzed to obtain data independent of genetic variation Samples GSM560961-GSM560976 correspond to publication with PMID: 21621540. Samples GSM560961-GSM560976, GSM1012177-GSM1012180 correspond to publication with PMID: 22826509.

Source Evidence

4 sources
Source Contribution Status
GEO

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

Sample records
20 GSM samples
Primary source
recount3

Planned trusted source for processed count availability.

No match found
Expression Atlas

Planned source for curated expression experiment links.

No match found
PubMed

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

2 linked publications 2 DOIs

Primary publication

  1. Twin study indicates loss of interaction between microbiota and mucosa of patients with ulcerative colitis. Gastroenterology, 2011
  2. A functional methylome map of ulcerative colitis. Genome research, 2012
Available

Metadata Quality Components

Analysis Readiness

Review before analysis
85% DE readiness

Contrast completeness

25/25 pts

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

Minimum group size

20/20 pts

Each contrast group has at least 2 samples.

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

7/10 pts

Warnings are present, but none are critical blockers.

Metadata normalization

10/10 pts

Metadata quality is high enough to support downstream handoff.

Blockers

  • 8 samples are still unassigned.

Next Steps

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

Analysis Preparation Checklist

4/6 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

Ready

Both groups meet the minimum of 2 samples.

Confirm whether the cohort is large enough for the intended statistical analysis.

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 8 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.

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

Assay context may require expert handling before DESeq2-style analysis.

Why This Is Ranked Here

Tumor vs normal
Not suitable Dataset does not meet the current suitability threshold.

Applied Review Decisions

No active review decisions affect this ranking.

Derived Classifications

  • Assay differs from search intent Microarray Search intent expects bulk RNA-seq. Assay came from Normalization rules.
  • Disease context Inflammatory bowel disease, ulcerative colitis Disease context came from Normalization rules.
  • Likely case group Ulcerative colitis 10 samples
  • Likely control group Non-inflamed tissue 2 samples

Intent Interpretation

  • Downgrade or exclusion reason Downgraded assay: microarray cohorts are separated from the RNA-seq intent. Derived from current-intent ranking reasons.

Ranking Facts

Supporting evidence

  • Comparison: Disease/model vs control. Specimen: Tissue. Comparison suitability: 0%.
  • Interpreted disease metadata: Inflammatory bowel disease, Ulcerative colitis.
  • Processed data is available for downstream review.
  • External evidence: PubMed links 2 publications; 2 DOIs available: PMID 21621540, PMID 22826509.
  • Publication context: Twin study indicates loss of interaction between microbiota and mucosa of patients with ulcerative colitis.. Gastroenterology, 2011. PMID 21621540. DOI 10.1053/j.gastro.2011.04.011.
  • Publication context: A functional methylome map of ulcerative colitis.. Genome research, 2012. PMID 22826509. DOI 10.1101/gr.138347.112.

Cautions

  • Downgraded assay: microarray cohorts are separated from the RNA-seq intent.
  • Disease/control design without a tumor/normal comparison is outside tumor/normal triage.
  • Microarray expression context downgraded below primary bulk RNA-seq for the default tissue ranking.
  • Overall score capped because comparison suitability is weak for the selected search intent.
  • Overall score capped because microarray cohorts should be compared separately from RNA-seq cohorts.
  • Comparison suitability score is below the Phase 1 recommended threshold.

Dataset Warnings

Normalized Fields

59 fields

Sample Group Preview

20 rows shown
Show Hide
Study totals: Case 10 | Control 2 | Unassigned 8 | Excluded 0 | Ambiguous 0 20 rows shown
Group Role Accession Title Source / characteristics Reason
Ulcerative colitis Case GSM560969 Diseased individual (ulcerative colitis) of twinpair #1 Primary mucosal tissue, colon Twin pair: #1; Individual: Diseased; Tissue: Colon, mucosal tissue; Mean age: 31.5 years old Case marker detected.
Ulcerative colitis Case GSM560970 Diseased individual (ulcerative colitis) of twinpair #4 Primary mucosal tissue, colon Twin pair: #4; Individual: Diseased; Tissue: Colon, mucosal tissue; Mean age: 31.5 years old Case marker detected.
Ulcerative colitis Case GSM560971 Diseased individual (ulcerative colitis) of twinpair #6 Primary mucosal tissue, colon Twin pair: #6; Individual: Diseased; Tissue: Colon, mucosal tissue; Mean age: 31.5 years old Case marker detected.
Ulcerative colitis Case GSM560972 Diseased individual (ulcerative colitis) of twinpair #7 Primary mucosal tissue, colon Twin pair: #7; Individual: Diseased; Tissue: Colon, mucosal tissue; Mean age: 31.5 years old Case marker detected.
Ulcerative colitis Case GSM560973 Diseased individual (ulcerative colitis) of twinpair #8 Primary mucosal tissue, colon Twin pair: #8; Individual: Diseased; Tissue: Colon, mucosal tissue; Mean age: 31.5 years old Case marker detected.
Ulcerative colitis Case GSM560974 Diseased individual (ulcerative colitis) of twinpair #9 Primary mucosal tissue, colon Twin pair: #9; Individual: Diseased; Tissue: Colon, mucosal tissue; Mean age: 31.5 years old Case marker detected.
Ulcerative colitis Case GSM560975 Diseased individual (ulcerative colitis) of twinpair #10 Primary mucosal tissue, colon Twin pair: #10; Individual: Diseased; Tissue: Colon, mucosal tissue; Mean age: 31.5 years old Case marker detected.
Ulcerative colitis Case GSM560976 Diseased individual (ulcerative colitis) of twinpair #12 Primary mucosal tissue, colon Twin pair: #12; Individual: Diseased; Tissue: Colon, mucosal tissue; Mean age: 31.5 years old Case marker detected.
Inflamed tissue Case GSM1012178 Diseased individual (ulcerative colitis) of twinpair #2 Primary mucosal tissue, colon Twin pair: #2; Individual: Diseased individual, inflamed; Tissue: Primary mucosal tissue, colon; Mean age: 31.5 Case marker detected.
Inflamed tissue Case GSM1012180 Diseased individual (ulcerative colitis) of twinpair #3 Primary mucosal tissue, colon Twin pair: #3; Individual: Diseased individual, inflamed; Tissue: Primary mucosal tissue, colon; Mean age: 31.5 Case marker detected.
Non-inflamed tissue Control GSM1012177 Healthy individual of twinpair #2 Primary mucosal tissue, colon Twin pair: #2; Individual: Healthy individual, non-inflamed; Tissue: Primary mucosal tissue, colon; Mean age: 31.5 Control marker detected.
Non-inflamed tissue Control GSM1012179 Healthy individual of twinpair #3 Primary mucosal tissue, colon Twin pair: #3; Individual: Healthy individual, non-inflamed; Tissue: Primary mucosal tissue, colon; Mean age: 31.5 Control marker detected.
Unassigned Unassigned GSM560961 Healthy individual of twinpair #1 Primary mucosal tissue, colon Twin pair: #1; Individual: Healthy; Tissue: Colon, mucosal tissue; Mean age: 31.5 years old No explicit case or control marker detected.
Unassigned Unassigned GSM560962 Healthy individual of twinpair #4 Primary mucosal tissue, colon Twin pair: #4; Individual: Healthy; Tissue: Colon, mucosal tissue; Mean age: 31.5 years old No explicit case or control marker detected.
Unassigned Unassigned GSM560963 Healthy individual of twinpair #6 Primary mucosal tissue, colon Twin pair: #6; Individual: Healthy; Tissue: Colon, mucosal tissue; Mean age: 31.5 years old No explicit case or control marker detected.
Unassigned Unassigned GSM560964 Healthy individual of twinpair #7 Primary mucosal tissue, colon Twin pair: #7; Individual: Healthy; Tissue: Colon, mucosal tissue; Mean age: 31.5 years old No explicit case or control marker detected.
Unassigned Unassigned GSM560965 Healthy individual of twinpair #8 Primary mucosal tissue, colon Twin pair: #8; Individual: Healthy; Tissue: Colon, mucosal tissue; Mean age: 31.5 years old No explicit case or control marker detected.
Unassigned Unassigned GSM560966 Healthy individual of twinpair #9 Primary mucosal tissue, colon Twin pair: #9; Individual: Healthy; Tissue: Colon, mucosal tissue; Mean age: 31.5 years old No explicit case or control marker detected.
Unassigned Unassigned GSM560967 Healthy individual of twinpair #10 Primary mucosal tissue, colon Twin pair: #10; Individual: Healthy; Tissue: Colon, mucosal tissue; Mean age: 31.5 years old No explicit case or control marker detected.
Unassigned Unassigned GSM560968 Healthy individual of twinpair #12 Primary mucosal tissue, colon Twin pair: #12; Individual: Healthy; Tissue: Colon, mucosal tissue; Mean age: 31.5 years old 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.