Evidence map›Paper›PMID 38326302›Full record

SynthesisNature communications2024

Integrating leiomyoma genetics, epigenomics, and single-cell transcriptomics reveals causal genetic variants, genes, and cell types.

Kadir Buyukcelebi, Alexander J Duval, Fatih Abdula, Hoda Elkafas, Fidan Seker-Polat, Mazhar Adli

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
7.0field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. UTERINE FIBROIDS.Physiological reviews · 2025
    Review
  5. Article
  6. Article
  7. Review
  8. Review
  9. Article
  10. Review
  11. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Kadir Buyukcelebi *Department of Obstetrics and Gynecology, Robert Lurie Comprehensive Cancer Center, Feinberg School of Medicine at Northwestern University, Chicago, IL, USA.ORCID 0009-0009-4653-7931
Alexander J Duval *Department of Obstetrics and Gynecology, Robert Lurie Comprehensive Cancer Center, Feinberg School of Medicine at Northwestern University, Chicago, IL, USA.
Fatih Abdula *Department of Obstetrics and Gynecology, Robert Lurie Comprehensive Cancer Center, Feinberg School of Medicine at Northwestern University, Chicago, IL, USA.ORCID 0000-0002-2728-5160
Hoda ElkafasDepartment of Obstetrics and Gynecology, Robert Lurie Comprehensive Cancer Center, Feinberg School of Medicine at Northwestern University, Chicago, IL, USA.ORCID 0000-0002-1058-3399
Fidan Seker-PolatDepartment of Obstetrics and Gynecology, Robert Lurie Comprehensive Cancer Center, Feinberg School of Medicine at Northwestern University, Chicago, IL, USA.
Mazhar AdliDepartment of Obstetrics and Gynecology, Robert Lurie Comprehensive Cancer Center, Feinberg School of Medicine at Northwestern University, Chicago, IL, USA. adli@northwestern.edu.ORCID 0000-0003-4740-9594
Northwestern University · US

Funding

The Origin and Cellular Heterogeneity of Uterine LeiomyomasP50HD098580 · NICHD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI BULUN, SERDAR E. · 2019 to 2023
$7.4M
NICHD NIH HHS P50 HD098580
6 · The paper itself

Abstract

Uterine fibroids (UF), that can disrupt normal uterine function and cause significant physical and psychological health problems, are observed in nearly 70% of women of reproductive age. Although heritable genetics is a significant risk factor, specific genetic variations and gene targets causally associated with UF are poorly understood. Here, we performed a meta-analysis on existing fibroid genome-wide association studies (GWAS) and integrated the identified risk loci and potentially causal single nucleotide polymorphisms (SNPs) with epigenomics, transcriptomics, 3D chromatin organization from diverse cell types as well as primary UF patient's samples. This integrative analysis identifies 24 UF-associated risk loci that potentially target 394 genes, of which 168 are differentially expressed in UF tumors. Critically, integrating this data with single-cell gene expression data from UF patients reveales the causal cell types with aberrant expression of these target genes. Lastly, CRISPR-based epigenetic repression (dCas9-KRAB) or activation (dCas9-p300) in a UF disease-relevant cell type further refines and narrows down the potential gene targets. Our findings and the methodological approach indicate the effectiveness of integrating multi-omics data with locus-specific epigenetic editing approaches for identifying gene- and celt type-targets of disease-relevant risk loci.

Indexed as

Genome-Wide Association StudyLeiomyomaEpigenomicsFemaleGene Expression ProfilingHumansPolymorphism, Single NucleotideRisk Factors

Identifiers

PMID38326302
PMCPMC10850163
OpenAlexW4391593895

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.