Evidence map›Paper›PMID 25608926›Full record

SynthesisNature communications2015

Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.

Regina C Betz, Lynn Petukhova, Stephan Ripke, Hailiang Huang, Androniki Menelaou, Silke Redler, Tim Becker, Stefanie Heilmann, Tarek Yamany, Madeliene Duvic and 23 more

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 147 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
147citing papers in PubMed, 7 pooled it
26.6field-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

147 citing papers in PubMed, 7 syntheses or guidelines pooled it, 290 citations in OpenAlex.

  1. Pooled it
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  11. Hidden immune memory niches in inflammatory skin diseases.bioRxiv : the preprint server for biology · 2026
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  16. Alopecia areata.Nature reviews. Disease primers · 2025
    Review
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87 more citing papers are in PubMed but not listed here.

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

33 authors at 18 institutions in 4 countries.

Regina C Betz *Institute of Human Genetics, University of Bonn, Bonn, Germany.
Lynn Petukhova *Department of Dermatology, Columbia University, NY, NY.
Stephan Ripke *Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA.
Hailiang HuangAnalytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA.
Androniki MenelaouDepartment of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Silke RedlerInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Tim BeckerGerman Center for Neurodegenerative Diseases, Bonn, Germany.
Stefanie HeilmannInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Tarek YamanyDepartment of Dermatology, Columbia University, NY, NY.
Madeliene DuvicDepartment of Dermatology, MD Anderson Cancer Center, Houston,TX.
Maria HordinskyDepartment of Dermatology, University of Minnesota, Minneapolis, MN.
David NorrisDepartment of Dermatology, University of Colorado, Denver, CO, US.
Vera H PriceDepartment of Dermatology, University of California, San Francisco, San Francisco CA.
Julian Mackay-WigganDepartment of Dermatology, Columbia University, NY, NY.
Annemieke de JongDepartment of Dermatology, Columbia University, NY, NY.
Gina M DeStefanoDepartment of Genetics & Development, Columbia University, NY, NY.
Susanne MoebusInstitute of Medical Informatics, Biometry, and Epidemiology, University Duisburg-Essen, Essen, Germany.
Markus BöhmDepartment of Dermatology, University of Münster, Münster, Germany.
Ulrike Blume-PeytaviClinical Research Center for Hair and Skin Science, Department of Dermatology and Allergy, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Hans WolffDepartment of Dermatology, University of Munich, Munich, Germany.
Gerhard LutzDermatological Practice, Hair and Nail, Wesseling, Germany.
Roland KruseDermatological Practice, Paderborn, Germany.
Li BianDepartment of Dermatology, Columbia University, NY, NY.
Christopher I AmosCommunity and Family Medicine and Genetics, Dartmouth College, Hanover, NH, US.
Annette LeeThe Feinstein Institute for Medical Research, Manhasset NY.
Peter K GregersenThe Feinstein Institute for Medical Research, Manhasset NY.
Bettina BlaumeiserDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium.
David AltshulerAnalytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA.
Raphael ClynesDepartment of Dermatology, Columbia University, NY, NY.
Paul I W de BakkerDepartment of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Markus M NöthenInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Mark J DalyAnalytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA.
Angela M ChristianoDepartment of Dermatology, Columbia University, NY, NY.
Columbia University · USUniversity of Bonn · DEBroad Institute · USFeinstein Institute for Medical Research · USUniversity Medical Center Utrecht · NLClinical Research Center for Hair and Skin Science · DEDartmouth College · USGerman Center for Neurodegenerative Diseases · DEHarvard University · USLudwig-Maximilians-Universität München · DEMassachusetts General Hospital · USThe University of Texas MD Anderson Cancer Center · USUniversity of Antwerp · BEUniversity of California, San Francisco · USUniversity of Colorado Denver · USUniversity of Duisburg-Essen · DEUniversity of Minnesota · USUniversity of Münster · DE

Funding

Tumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI Fabien Delerue · 1985 to 2026
$290.8M
Translational Engineering in Cancer (TEC)P30CA023108 · NCI · DARTMOUTH COLLEGE · PI Fred W Kolling IV · 1985 to 2026
$91.3M
PREDOCTORAL TRAINING GRANT IN HUMAN GENETICS &DEVELOPMET32GM007088 · NIGMS · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI SHEN, MICHAEL M. · 1985 to 2020
$7.1M
Genome Wide Association Studies in Alopecia AreataR01AR056016 · NIAMS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CHRISTIANO, ANGELA M · 2008 to 2012
$2.7M
Mechanisms Controlling the Super-Relaxed StateR01AR062279 · NIAMS · WASHINGTON STATE UNIVERSITY · PI KOSTYUKOVA, ALLA S. · 2012 to 2016
$2.4M
Genetic Analysis of Alopecia AreataR01AR052579 · NIAMS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CHRISTIANO, ANGELA M · 2006 to 2009
$1.3M
Developing an Alopecia Areata Disease Activity Index (ALADIN)U01AR067173 · NIAMS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CHRISTIANO, ANGELA M · 2014 to 2016
$734k
National Alopecia Areata RegistryN01AR62279 · NIAMS · UNIVERSITY OF TX MD ANDERSON CAN CTR · 2008 to 2008
$590k
NCI NIH HHS P30 CA016672NCI NIH HHS P30 CA023108NHLBI NIH HHS N01 AR062279NIAMS NIH HHS N01AR62279NIAMS NIH HHS R01 AR052579NIAMS NIH HHS R01 AR056016NIAMS NIH HHS R01AR52579NIAMS NIH HHS R01AR56016NIAMS NIH HHS U01 AR067173NIGMS NIH HHS T32 GM007088
6 · The paper itself

Abstract

Alopecia areata (AA) is a prevalent autoimmune disease with 10 known susceptibility loci. Here we perform the first meta-analysis of research on AA by combining data from two genome-wide association studies (GWAS), and replication with supplemented ImmunoChip data for a total of 3,253 cases and 7,543 controls. The strongest region of association is the major histocompatibility complex, where we fine-map four independent effects, all implicating human leukocyte antigen-DR as a key aetiologic driver. Outside the major histocompatibility complex, we identify two novel loci that exceed the threshold of statistical significance, containing ACOXL/BCL2L11(BIM) (2q13); GARP (LRRC32) (11q13.5), as well as a third nominally significant region SH2B3(LNK)/ATXN2 (12q24.12). Candidate susceptibility gene expression analysis in these regions demonstrates expression in relevant immune cells and the hair follicle. We integrate our results with data from seven other autoimmune diseases and provide insight into the alignment of AA within these disorders. Our findings uncover new molecular pathways disrupted in AA, including autophagy/apoptosis, transforming growth factor beta/Tregs and JAK kinase signalling, and support the causal role of aberrant immune processes in AA.

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotideAdaptor Proteins, Signal TransducingAllelesAlopecia AreataAnimalsApoptosis Regulatory ProteinsAtaxin-2Bcl-2-Like Protein 11Case-Control StudiesFemaleGenome-Wide Association StudyHLA AntigensHumansIntracellular Signaling Peptides and ProteinsMaleAdaptor Proteins, Signal TransducingApoptosis Regulatory ProteinsAtaxin-2ATXN2 protein, humanBCL2L11 protein, humanBcl2l11 protein, mouseBcl-2-Like Protein 11HLA AntigensIntracellular Signaling Peptides and ProteinsLRRC32 protein, humanMembrane ProteinsProteinsProto-Oncogene ProteinsSH2B3 protein, human

Identifiers

PMID25608926
PMCPMC4451186
OpenAlexW1992025886

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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.