Evidence map›Paper›PMID 37500727›Full record

ArticleNature genetics2023

Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases.

Benjamin Ober-Reynolds, Chen Wang, Justin M Ko, Eon J Rios, Sumaira Z Aasi, Mark M Davis, Anthony E Oro, William J Greenleaf

Open access · greenAbstract read
In one paragraph

Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
49citing papers in PubMed, 1 pooled it
18.1field-weighted citation impact, top 1% 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

49 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. An updated guide to hair follicle stem cell markers and changes in their expression with aging.JID innovations : skin science from molecules to population health · 2026
    Review
  9. Article
  10. Article
  11. Article
  12. Hidden immune memory niches in inflammatory skin diseases.bioRxiv : the preprint server for biology · 2026
    Article
  13. Article
  14. Article
  15. Review
  16. Article
  17. Review
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors at 4 institutions in 1 country.

Benjamin Ober-ReynoldsDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Chen WangDepartment of Dermatology, School of Medicine, Stanford University, Stanford, CA, USA.
Justin M KoDepartment of Dermatology, School of Medicine, Stanford University, Stanford, CA, USA.
Eon J RiosDepartment of Dermatology, School of Medicine, Stanford University, Stanford, CA, USA.
Sumaira Z AasiDepartment of Dermatology, School of Medicine, Stanford University, Stanford, CA, USA.
Mark M DavisInstitute of Immunity, Transplantation and Infection, School of Medicine, Stanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0001-6868-657X
Anthony E OroDepartment of Dermatology, School of Medicine, Stanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-6261-138X
William J GreenleafDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA. wjg@stanford.edu.ORCID http://orcid.org/0000-0003-1409-3095
Stanford University · USSanta Clara Valley Medical Center · USChan Zuckerberg Initiative (United States) · USHoward Hughes Medical Institute · US

Funding

VACCINE INDUCED IMMUNITY IN THE YOUNG AND AGEDU19AI057266 · NIAID · EMORY UNIVERSITY · PI Rafi Ahmed · 2003 to 2026
$81.7M
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007365 · NIGMS · STANFORD UNIVERSITY · PI CHUA, KATRIN F · 1985 to 2021
$33.8M
PRODUCTION CENTER FOR MAPPING REGULATORY REGIONS OF THE HUMAN GENOMEUM1HG009442 · NHGRI · STANFORD UNIVERSITY · PI SNYDER, MICHAEL P. · 2017 to 2021
$20.1M
The effects of immune-age on immune-response and the molecular mechanisms which drive itP01AI153559 · NIAID · STANFORD UNIVERSITY · PI DAVIS, MARK MORRIS · 2021 to 2025
$17.8M
Stanford Mendelian Genomics Research CenterU01HG011762 · NHGRI · STANFORD UNIVERSITY · PI Jonathan Adam Bernstein, Stephen Montgomery · 2021 to 2026
$16.7M
Special EquipmentP50HG007735 · NHGRI · STANFORD UNIVERSITY · PI CHANG, HOWARD Y · 2014 to 2018
$15.2M
Center for Personal Dynamic RegulomesRM1HG007735 · NHGRI · STANFORD UNIVERSITY · PI CHANG, HOWARD Y · 2019 to 2023
$13.8M
Stanford Center for Connecting DNA Variants to Function and PhenotypeUM1HG011972 · NHGRI · STANFORD UNIVERSITY · PI JESSE M ENGREITZ, THOMAS QUERTERMOUS · 2021 to 2026
$10.5M
Medical Scientist Training ProgramT32GM145402 · NIGMS · STANFORD UNIVERSITY · PI Katrin F. Chua · 2022 to 2026
$10.0M
Stanford Tissue Mapping Center - STELLARU54HG012723 · NHGRI · STANFORD UNIVERSITY · PI NOLAN, GARRY P, SNYDER, MICHAEL P. · 2022 to 2025
$7.8M
High-throughput systematic characterization of regulatory element functionUM1HG009436 · NHGRI · STANFORD UNIVERSITY · PI BASSIK, MICHAEL C, GREENLEAF, WILLIAM JAMES · 2017 to 2021
$5.4M
REGULATING GLI FUNCTION IN HAIR FOLLICLE PROGENITORSR01AR054780 · NIAMS · STANFORD UNIVERSITY · PI ORO, ANTHONY E · 2007 to 2017
$4.3M
NHGRI NIH HHS P50 HG007735NHGRI NIH HHS R01 HG009909NHGRI NIH HHS RM1 HG007735NHGRI NIH HHS U01 HG011762NHGRI NIH HHS U54 HG012723NHGRI NIH HHS UM1 HG009436NHGRI NIH HHS UM1 HG009442NHGRI NIH HHS UM1 HG011972NIAID NIH HHS P01 AI153559NIAID NIH HHS U19 AI057266NIAMS NIH HHS R01 AR054780NIAMS NIH HHS R37 AR054780NIGMS NIH HHS T32 GM007365NIGMS NIH HHS T32 GM145402NINDS NIH HHS R01 NS128028
6 · The paper itself

Abstract

Genome-wide association studies have identified many loci associated with hair and skin disease, but identification of causal variants requires deciphering of gene-regulatory networks in relevant cell types. We generated matched single-cell chromatin profiles and transcriptomes from scalp tissue from healthy controls and patients with alopecia areata, identifying diverse cell types of the hair follicle niche. By interrogating these datasets at multiple levels of cellular resolution, we infer 50-100% more enhancer-gene links than previous approaches and show that aggregate enhancer accessibility for highly regulated genes predicts expression. We use these gene-regulatory maps to prioritize cell types, genes and causal variants implicated in the pathobiology of androgenetic alopecia (AGA), eczema and other complex traits. AGA genome-wide association studies signals are enriched in dermal papilla regulatory regions, supporting the role of these cells as drivers of AGA pathogenesis. Finally, we train machine learning models to nominate single-nucleotide polymorphisms that affect gene expression through disruption of transcription factor binding, predicting candidate functional single-nucleotide polymorphism for AGA and eczema.

Indexed as

Alopecia AreataEczemaChromatinGenome-Wide Association StudyHair FollicleHumansScalpTranscriptomeChromatin

Identifiers

PMID37500727
PMCPMC11190942
OpenAlexW4385302662

What OpenQuestion holds

Textmetadata
LicenceTDM
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.