ArticlemedRxiv : the preprint server for health sciences2025
The polygenic architecture of hidradenitis suppurativa reveals signaling mechanisms that implicate epithelial remodeling.
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Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1citing papers in PubMed
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Who cites it
1 citing paper in PubMed.
- Exposome Versus Genome in HS: How Do We Currently Explain Where Disease Arises from?Journal of clinical medicine · 2026Review
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Authors and funding
53 authors.
Atlas KhanDepartment of Medicine, Vagelos College of Physicians and Surgeons, Columbia University; New York, NY, USA.
Poppy A GouldThe Ronald O. Perelman Department of Dermatology, NYU Langone Health; New York, NY, USA.
Yiming LuoColumbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Hospital; New York, NY, USA.
Errol P PrensDepartment of Dermatology, Erasmus MC; Rotterdam, The Netherlands.
Lee WhelessDepartment of Dermatology, Vanderbilt University Medical Center; Nashville, TN, USA.
Adriana M HungDivision of Nephrology and Hypertension, Department of Medicine, Vanderbilt University Medical Center; Nashville, TN, USA.
VA Million Veteran Program
Theodore G DrivasDepartment of Medicine, Translational Medicine and Human Genetics, University of Pennsylvania Perelman School of Medicine; Philadelphia, PA, USA.
Marylyn D RitchieDepartment of Genetics, University of Pennsylvania Perelman School of Medicine; Philadelphia, PA, USA.
Amir Hossein SaeidianCenter for Applied Genomics, Children's Hospital of Philadelphia Research Institute; Philadelphia, PA, USA.
Hákon HákonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia Research Institute; Philadelphia, PA, USA.
Michael MarchCenter for Applied Genomics, Children's Hospital of Philadelphia Research Institute; Philadelphia, PA, USA.
Nick DandDepartment of Medical & Molecular Genetics, School of Basic & Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London; London, UK.
Jonathan BarkerSt John's Institute of Dermatology, School of Basic & Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London; London, UK.
Michael SimpsonDepartment of Medical & Molecular Genetics, School of Basic & Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London; London, UK.
Jake SaklatvalaDepartment of Medical & Molecular Genetics, School of Basic & Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London; London, UK.
Xinyi Du-HarpurSt John's Institute of Dermatology, School of Basic & Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London; London, UK.
Shahir FarnoodDepartment of Medical & Molecular Genetics, School of Basic & Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London; London, UK.
Raymond ChungInstitute of Psychiatry, Psychology and Neuroscience, King's College London; Denmark Hill, Camberwell, London, UK.
Charles J CurtisInstitute of Psychiatry, Psychology and Neuroscience, King's College London; Denmark Hill, Camberwell, London, UK.
Sang Hyuck LeeInstitute of Psychiatry, Psychology and Neuroscience, King's College London; Denmark Hill, Camberwell, London, UK.
Brian KirbyUCD Charles Institute of Dermatology, School of Medicine, University College Dublin; Dublin, Ireland.
Maris Teder-LavingEstonian Genome Center, Institute of Genomics, University of Tartu; Tartu, Estonia.
Külli KingoDepartment of Dermatology and Venereology, Institute of Clinical Medicine, University of Tartu; Tartu, Estonia.
Estonian Biobank research team
Laurent F ThomasDepartment of Clinical and Molecular Medicine, NTNU - Norwegian University of Science and Technology; Trondheim, Norway.
Mari LøsetHUNT Center for Molecular and Clinical Epidemiology, Department of Public Health and Nursing, NTNU - Norwegian University of Science and Technology; Trondheim, Norway.
Ben Michael BrumptonHUNT Center for Molecular and Clinical Epidemiology, Department of Public Health and Nursing, NTNU - Norwegian University of Science and Technology; Trondheim, Norway.
Kristian HveemHUNT Center for Molecular and Clinical Epidemiology, Department of Public Health and Nursing, NTNU - Norwegian University of Science and Technology; Trondheim, Norway.
M Geoffrey HayesDivision of Endocrinology, Metabolism and Molecular Medicine, Northwestern University Feinberg School of Medicine; Chicago, IL, USA.
John ConnollyCenter for Applied Genomics, Children's Hospital of Philadelphia Research Institute; Philadelphia, PA, USA.
Frank MentchCenter for Applied Genomics, Children's Hospital of Philadelphia Research Institute; Philadelphia, PA, USA.
Patrick SleimanCenter for Applied Genomics, Children's Hospital of Philadelphia Research Institute; Philadelphia, PA, USA.
Kathleen LaRow BrownDepartment of Biomedical Informatics, Vagelos College of Physicians and Surgeons, Columbia University; New York, NY, USA.
Nicholas TatonettiDepartment of Computational Biomedicine, Cedars-Sinai Medical Center; Los Angeles, CA, USA.
Olivia D PerezThe Ronald O. Perelman Department of Dermatology, NYU Langone Health; New York, NY, USA.
Alice BraunDepartment of Psychiatry and Psychotherapy, Charité - Universitätsmedizin Berlin; Berlin, Germany.
Stephan RipkeDepartment of Psychiatry and Psychotherapy, Charité - Universitätsmedizin Berlin; Berlin, Germany.
Sadhana GaddamDepartment of Dermatology, Stanford University School of Medicine; Stanford, CA, USA.
Anthony OroDepartment of Dermatology, Stanford University School of Medicine; Stanford, CA, USA.
Leah C RedmondDepartment of Bioengineering, Imperial College London; London, UK.
Claire HigginsDepartment of Bioengineering, Imperial College London; London, UK.
Meng-Ju LinDepartment of Bioengineering, Imperial College London; London, UK.
Ernest S ChiuHansjörg Wyss Department of Plastic Surgery, New York University Grossman School of Medicine; New York, NY, USA.
Catherine P LuHansjörg Wyss Department of Plastic Surgery, New York University Grossman School of Medicine; New York, NY, USA.
George HripcsakDepartment of Biomedical Informatics, Vagelos College of Physicians and Surgeons, Columbia University; New York, NY, USA.
Chunhua WengDepartment of Biomedical Informatics, Vagelos College of Physicians and Surgeons, Columbia University; New York, NY, USA.
Krzysztof KirylukDepartment of Medicine, Vagelos College of Physicians and Surgeons, Columbia University; New York, NY, USA.
Lam C TsoiDepartment of Dermatology, University of Michigan; Ann Arbor, MI, USA.
Johann E GudjonssonDepartment of Dermatology, University of Michigan; Ann Arbor, MI, USA.
Kelsey R van StraalenDepartment of Dermatology, Erasmus MC; Rotterdam, The Netherlands.
Joshua D MilnerDepartment of Pediatrics, Columbia University Irving Medical Center; New York, NY, USA.
Lynn PetukhovaThe Ronald O. Perelman Department of Dermatology, NYU Langone Health; New York, NY, USA.ORCID 0000-0002-1573-1653
Funding
REGULATING GLI FUNCTION IN HAIR FOLLICLE PROGENITORSR01AR054780 · NIAMS · STANFORD UNIVERSITY · PI ORO, ANTHONY E · 2007 to 2017
$4.3MEstablishing the contributions of monogenic etiologies to hidradenitis suppurativapathogenesisR01AR080796 · NIAMS · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI Lynn Petukhova · 2023 to 2026
$2.1MIdentification of biologically relevant subtypes of hidradenitis suppurativaK01AR075111 · NIAMS · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI PETUKHOVA, LYNN · 2020 to 2024
$534kBLRD VA I01 BX003360CSRD VA I01 CX001897CSRD VA IK2 CX002452NIAMS NIH HHS K01 AR075111NIAMS NIH HHS R01 AR054780NIAMS NIH HHS R01 AR080796
Abstract
We sought to identify clinically relevant regulators of hair follicle inflammation by conducting a human genetic study of hidradenitis suppurativa (HS), a prevalent, understudied, inflammatory disease with limited effective treatments. We performed a GWAS with 6,300 cases and identified 12 independent risk loci. Epigenetic and transcriptomic analyses of HS risk variants defined cell-specific gene regulatory programs. We experimentally validated a coherent gene module defined by upregulated
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