Text · study · 2026
Integrative functional genomics reveals transcriptional regulatory function of risk alleles for metabolic liver disease
Listed in NCBI GEO
Genome-wide association studies (GWAS) have identified nearly 100 loci associated with metabolic dysfunction-associated steatotic liver disease (MASLD), but the molecular functions of these variant alleles remain elusive, particularly when they occur in non-coding regions.
Description
Here we profiled the chromatin landscape of liver nuclei from 12 individuals with varying stages of metabolic liver disease, which provide a global regulatory program in liver.
Then we used massively parallel reporter screen to identify differential activity variants (DAVs). The target genes of these DAVs were delineated by expression quantitative trait loci (eQTLs), chromatin loops and single-cell CRISPRi screening. These multimodal integration analyses provide insights into the regulatory mechanisms of MASLD progression driven by genetic risks.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE281nnn/GSE281364 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE281364 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1183729 ncbi.nlm.nih.gov/bioproject/PRJNA1183729 ↗
project · from NCBI GEO
- PubMed 42230773 pubmed.ncbi.nlm.nih.gov/42230773 ↗
publication · from NCBI GEO
Topics
- Stated by source
- Homo sapiens · Other
- From keywords
- Life Sciences
Provenance · 1 source records, 9 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE281364 | 15 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[disease].local:disease:disease | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[field].anzsrc:group:3105 | enrichment · NCBI GEO | taxonomy-embedding@1.1.0 | title+keywords+description (72%) |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:other | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[organism].NCBITaxon:9606 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |