Evidence map›Paper›PMID 37737258›Full record

ArticleNature communications2023

Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss.

Sabrina Katrin Henne, Rana Aldisi, Sugirthan Sivalingam, Lara Maleen Hochfeld, Oleg Borisov, Peter Michael Krawitz, Carlo Maj, Markus Maria Nöthen, Stefanie Heilmann-Heimbach

Abstract read
In one paragraph

Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
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

6 citing papers in PubMed.

  1. Review
  2. Review
  3. Review
  4. Androgenetic alopecia.Nature reviews. Disease primers · 2025
    Review
  5. Review
  6. 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

9 authors.

Sabrina Katrin HenneInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0002-2953-2700
Rana AldisiInstitute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0002-3034-9970
Sugirthan SivalingamInstitute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
Lara Maleen HochfeldInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Oleg BorisovInstitute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0001-8700-4335
Peter Michael KrawitzInstitute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
Carlo MajInstitute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0002-9559-1725
Markus Maria NöthenInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0002-8770-2464
Stefanie Heilmann-HeimbachInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany. sheilman@uni-bonn.de.ORCID http://orcid.org/0000-0003-1057-465X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Male-pattern hair loss (MPHL) is common and highly heritable. While genome-wide association studies (GWAS) have generated insights into the contribution of common variants to MPHL etiology, the relevance of rare variants remains unclear. To determine the contribution of rare variants to MPHL etiology, we perform gene-based and single-variant analyses in exome-sequencing data from 72,469 male UK Biobank participants. While our population-level risk prediction suggests that rare variants make only a minor contribution to general MPHL risk, our rare variant collapsing tests identified a total of five significant gene associations. These findings provide additional evidence for previously implicated genes (EDA2R, WNT10A) and highlight novel risk genes at and beyond GWAS loci (HEPH, CEPT1, EIF3F). Furthermore, MPHL-associated genes are enriched for genes considered causal for monogenic trichoses. Together, our findings broaden the MPHL-associated allelic spectrum and provide insights into MPHL pathobiology and a shared basis with monogenic hair loss disorders.

Indexed as

Biological Specimen BanksExomeAlopeciaGenome-Wide Association StudyHumansMaleUnited Kingdom

Identifiers

PMID37737258
PMCPMC10517150

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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.