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Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

Author

Listed:
  • Christos Tziotzios

    (St. John’s Institute of Dermatology, King’s College London, London, Guy’s Hospital)

  • Christos Petridis

    (King’s College London, Guy’s Hospital)

  • Nick Dand

    (King’s College London, Guy’s Hospital)

  • Chrysanthi Ainali

    (St. John’s Institute of Dermatology, King’s College London, London, Guy’s Hospital)

  • Jake R. Saklatvala

    (King’s College London, Guy’s Hospital)

  • Venu Pullabhatla

    (Guy’s & St. Thomas’ NHS Foundation Trust)

  • Alexandros Onoufriadis

    (St. John’s Institute of Dermatology, King’s College London, London, Guy’s Hospital)

  • Rashida Pramanik

    (Guy’s & St. Thomas’ NHS Foundation Trust)

  • David Baudry

    (St. John’s Institute of Dermatology, King’s College London, London, Guy’s Hospital)

  • Sang Hyuck Lee

    (King’s College London, Denmark Hill Campus)

  • Kristie Wood

    (Guy’s & St. Thomas’ NHS Foundation Trust)

  • Lu Liu

    (St. Thomas Hospital)

  • Seth Seegobin

    (St. John’s Institute of Dermatology, King’s College London, London, Guy’s Hospital)

  • Gregory A. Michelotti

    (Metabolon, Inc.)

  • Su M. Lwin

    (St. John’s Institute of Dermatology, King’s College London, London, Guy’s Hospital)

  • Evangelos A. A. Christou

    (St. John’s Institute of Dermatology, King’s College London, London, Guy’s Hospital)

  • Charles J. Curtis

    (Guy’s & St. Thomas’ NHS Foundation Trust)

  • Emanuele Rinaldis

    (Guy’s & St. Thomas’ NHS Foundation Trust)

  • Alka Saxena

    (Guy’s & St. Thomas’ NHS Foundation Trust)

  • Susan Holmes

    (Queen Elizabeth University Hospital)

  • Matthew Harries

    (The University of Manchester, Salford Royal NHS Foundation Trust)

  • Ioulios Palamaras

    (Barnet General Hospital, Royal Free Foundation Trust)

  • Fiona Cunningham

    (Queen Elizabeth University Hospital)

  • Gregory Parkins

    (Queen Elizabeth University Hospital)

  • Manjit Kaur

    (Solihull Hospital)

  • Paul Farrant

    (Brighton and Sussex University Hospitals NHS Trust)

  • Andrew McDonagh

    (Royal Hallamshire Hospital)

  • Andrew Messenger

    (Royal Hallamshire Hospital)

  • Jennifer Jones

    (Royal Free Hospital)

  • Victoria Jolliffe

    (Royal London Hospital, Barts Health NHS Trust)

  • Iaisha Ali

    (Imperial College Healthcare NHS Trust)

  • Michael Ardern-Jones

    (University Hospitals Southampton NHS Foundation Trust)

  • Charles Mitchell

    (Portsmouth Hospitals NHS Trust)

  • Nigel Burrows

    (Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust)

  • Ravinder Atkar

    (Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust)

  • Cedric Banfield

    (Peterborough City Hospital)

  • Anton Alexandroff

    (University Hospitals of Leicester, Leicester Royal Infirmary)

  • Caroline Champagne

    (The Churchill Hospital)

  • Hywel L. Cooper

    (Portsmouth Hospitals NHS Trust)

  • Sergio Vañó-Galván

    (Ramon Y Cajal Hospital, University of Alcala, IRYCIS)

  • Ana Maria Molina-Ruiz

    (Hospital Universitario Fundación Jiménez Díaz)

  • Nerea Ormaechea Perez

    (Hospital Donostia)

  • Girish K. Patel

    (Hywel Dda University Health Board)

  • Abby Macbeth

    (Norfolk & Norwich University Hospitals NHS Foundation Trust)

  • Melanie Page

    (Norfolk & Norwich University Hospitals NHS Foundation Trust)

  • Alyson Bryden

    (Ninewells Hospital)

  • Megan Mowbray

    (Queen Margaret Hospital)

  • Shyamal Wahie

    (County Durham and Darlington NHS Foundation Trust)

  • Keith Armstrong

    (Royal Victoria Hospital)

  • Nicola Cooke

    (Whiteabbey Hospital, Northern Health & Social Care Trust)

  • Mark Goodfield

    (Chapel Allerton Hospital, Leeds teaching Hospitals NHS Trust)

  • Irene Man

    (Surrey and Sussex Healthcare NHS Trust)

  • David Berker

    (University Hospitals Bristol NHS Foundation Trust)

  • Giles Dunnill

    (University Hospitals Bristol NHS Foundation Trust)

  • Anita Takwale

    (Gloucestershire Hospitals NHS Foundation Trust)

  • Archana Rao

    (Kingston Hospital NHS Foundation Trust)

  • Tee-Wei Siah

    (Royal Victoria Infirmary)

  • Rodney Sinclair

    (University of Melbourne)

  • Martin S. Wade

    (The London Skin and Hair Clinic)

  • Ncoza C. Dlova

    (Nelson R Mandela School of Medicine)

  • Jane Setterfield

    (St. John’s Institute of Dermatology, King’s College London, London, Guy’s Hospital)

  • Fiona Lewis

    (St. John’s Institute of Dermatology, King’s College London, London, Guy’s Hospital)

  • Kapil Bhargava

    (St. John’s Institute of Dermatology, King’s College London, London, Guy’s Hospital)

  • Niall Kirkpatrick

    (Chelsea & Westminster Hospital)

  • Xavier Estivill

    (Dexeus Women’s Health)

  • Catherine M. Stefanato

    (St. John’s Institute of Dermatology, St. Thomas’ Hospital)

  • Carsten Flohr

    (St. John’s Institute of Dermatology, King’s College London, London, Guy’s Hospital)

  • Timothy Spector

    (King’s College London)

  • Fiona M. Watt

    (King’s College London, Guy’s Hospital)

  • Catherine H. Smith

    (St. John’s Institute of Dermatology, King’s College London, London, Guy’s Hospital)

  • Jonathan N. Barker

    (St. John’s Institute of Dermatology, King’s College London, London, Guy’s Hospital)

  • David A. Fenton

    (St. John’s Institute of Dermatology, King’s College London, London, Guy’s Hospital)

  • Michael A. Simpson

    (King’s College London, Guy’s Hospital)

  • John A. McGrath

    (St. John’s Institute of Dermatology, King’s College London, London, Guy’s Hospital)

Abstract

Frontal fibrosing alopecia (FFA) is a recently described inflammatory and scarring type of hair loss affecting almost exclusively women. Despite a dramatic recent increase in incidence the aetiopathogenesis of FFA remains unknown. We undertake genome-wide association studies in females from a UK cohort, comprising 844 cases and 3,760 controls, a Spanish cohort of 172 cases and 385 controls, and perform statistical meta-analysis. We observe genome-wide significant association with FFA at four genomic loci: 2p22.2, 6p21.1, 8q24.22 and 15q2.1. Within the 6p21.1 locus, fine-mapping indicates that the association is driven by the HLA-B*07:02 allele. At 2p22.1, we implicate a putative causal missense variant in CYP1B1, encoding the homonymous xenobiotic- and hormone-processing enzyme. Transcriptomic analysis of affected scalp tissue highlights overrepresentation of transcripts encoding components of innate and adaptive immune response pathways. These findings provide insight into disease pathogenesis and characterise FFA as a genetically predisposed immuno-inflammatory disorder driven by HLA-B*07:02.

Suggested Citation

  • Christos Tziotzios & Christos Petridis & Nick Dand & Chrysanthi Ainali & Jake R. Saklatvala & Venu Pullabhatla & Alexandros Onoufriadis & Rashida Pramanik & David Baudry & Sang Hyuck Lee & Kristie Woo, 2019. "Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02," Nature Communications, Nature, vol. 10(1), pages 1-9, December.
    • Handle: RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-019-09117-w
    DOI: 10.1038/s41467-019-09117-w
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