Evidence map›Paper›PMID 22693459›Full record

SynthesisPLoS genetics2012

Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.

Rui Li, Felix F Brockschmidt, Amy K Kiefer, Hreinn Stefansson, Dale R Nyholt, Kijoung Song, Sita H Vermeulen, Stavroula Kanoni, Daniel Glass, Sarah E Medland and 29 more

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
54citing papers in PubMed, 3 pooled it
8.5field-weighted citation impact, top 2% 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

54 citing papers in PubMed, 3 syntheses or guidelines pooled it, 127 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Review
  5. Review
  6. Review
  7. Androgenetic alopecia.Nature reviews. Disease primers · 2025
    Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Class IIa HDAC4 and HDAC7 cooperatively regulate gene transcription in Th17 cell differentiation.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Male-pattern hair loss: Comprehensive identification of the associated genes as a basis for understanding pathophysiology.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023
    Article
  20. 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

39 authors at 20 institutions in 11 countries.

Rui LiDepartments of Medicine, Human Genetics, Epidemiology, and Biostatistics, Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, Quebec, Canada.
Felix F Brockschmidt
Amy K Kiefer
Hreinn Stefansson
Dale R Nyholt
Kijoung Song
Sita H Vermeulen
Stavroula Kanoni
Daniel Glass
Sarah E Medland
Maria Dimitriou
Dawn Waterworth
Joyce Y Tung
Frank Geller
Stefanie Heilmann
Axel M Hillmer
Veronique Bataille
Sibylle Eigelshoven
Sandra Hanneken
Susanne Moebus
Christine Herold
Martin den Heijer
Grant W Montgomery
Panos Deloukas
Nicholas Eriksson
Andrew C Heath
Tim Becker
Patrick Sulem
Massimo Mangino
Peter Vollenweider
Tim D Spector
George Dedoussis
Nicholas G Martin
Lambertus A Kiemeney
Vincent Mooser
Kari Stefansson
David A Hinds
Markus M Nöthen
J Brent Richards
23andMe (United States) · USKing's College London · GBQIMR Berghofer Medical Research Institute · AUdeCODE Genetics (Iceland) · ISGlaxoSmithKline (United States) · USRadboud University Nijmegen · NLHarokopio University of Athens · GRHeinrich Heine University Düsseldorf · DELife & Brain (Germany) · DEWellcome Sanger Institute · GBGenome Institute of Singapore · SGGerman Center for Neurodegenerative Diseases · DEInstitut für Medizinische Biometrie, Informatik und Epidemiologie · DEJewish General Hospital · CAMcGill University · CAStatens Serum Institut · DKUniversity Hospital of Lausanne · CHUniversity of Bonn · DEUniversity of Duisburg-Essen · DEWashington University in St. Louis · US

Funding

Molecular Epidemiology of Alcoholism 3 - EDAC FamiliesR01AA013321 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 2001 to 2005
$4.3M
Molecular Epidemiology of Alcoholism 2- Big SibshipsR01AA013320 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 2003 to 2007
$3.1M
Genetic Epidemiology of Pathological GamblingR01MH066206 · NIMH · UNIVERSITY OF MISSOURI-COLUMBIA · PI SLUTSKE, WENDY S · 2003 to 2007
$2.5M
Molecular Epidemiology of Alcoholism 1: Candidate GeneR01AA013326 · NIAAA · QUEENSLAND INSTITUTE OF MEDICAL RESEARCH · PI MARTIN, NICHOLAS G · 2001 to 2005
$2.1M
VARIATION IN THE EFFECTS OF ALCOHOL ON LIVER FUNCTIONR01AA014041 · NIAAA · QUEENSLAND INSTITUTE OF MEDICAL RESEARCH · PI WHITFIELD, JOHN B · 2003 to 2007
$2.1M
GENE-ENVIRONMENT INTERPLAY IN ALCOHOLISMK05AA017688 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 2008 to 2017
$1.9M
PERSISTENCE &CHANGE IN DRINKING HABITS: TWIN STUDYR01AA007535 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 1989 to 1996
–
CIHRNIAAA NIH HHS AA10248NIAAA NIH HHS AA13320NIAAA NIH HHS AA13321NIAAA NIH HHS AA13326NIAAA NIH HHS AA14041NIAAA NIH HHS K05 AA017688NIAAA NIH HHS R01 AA007535NIAAA NIH HHS R01 AA013320NIAAA NIH HHS R01 AA013321NIAAA NIH HHS R01 AA013326NIAAA NIH HHS R01 AA014041NIMH NIH HHS MH66206NIMH NIH HHS R01 MH066206Wellcome Trust
6 · The paper itself

Abstract

Androgenetic alopecia (AGA) is a highly heritable condition and the most common form of hair loss in humans. Susceptibility loci have been described on the X chromosome and chromosome 20, but these loci explain a minority of its heritable variance. We conducted a large-scale meta-analysis of seven genome-wide association studies for early-onset AGA in 12,806 individuals of European ancestry. While replicating the two AGA loci on the X chromosome and chromosome 20, six novel susceptibility loci reached genome-wide significance (p = 2.62×10⁻⁹-1.01×10⁻¹²). Unexpectedly, we identified a risk allele at 17q21.31 that was recently associated with Parkinson's disease (PD) at a genome-wide significant level. We then tested the association between early-onset AGA and the risk of PD in a cross-sectional analysis of 568 PD cases and 7,664 controls. Early-onset AGA cases had significantly increased odds of subsequent PD (OR = 1.28, 95% confidence interval: 1.06-1.55, p = 8.9×10⁻³). Further, the AGA susceptibility alleles at the 17q21.31 locus are on the H1 haplotype, which is under negative selection in Europeans and has been linked to decreased fertility. Combining the risk alleles of six novel and two established susceptibility loci, we created a genotype risk score and tested its association with AGA in an additional sample. Individuals in the highest risk quartile of a genotype score had an approximately six-fold increased risk of early-onset AGA [odds ratio (OR) = 5.78, p = 1.4×10⁻⁸⁸]. Our results highlight unexpected associations between early-onset AGA, Parkinson's disease, and decreased fertility, providing important insights into the pathophysiology of these conditions.

Indexed as

Genome-Wide Association StudyAdultAgedAllelesAlopeciaFertilityGenetic Predisposition to DiseaseGenotypeHaplotypesHumansMaleMiddle AgedParkinson DiseasePolymorphism, Single NucleotideRisk Factors

Identifiers

PMID22693459
PMCPMC3364959
OpenAlexW2096669722

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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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.