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

Christos Tziotzios (), Christos Petridis, Nick Dand, Chrysanthi Ainali, Jake R. Saklatvala, Venu Pullabhatla, Alexandros Onoufriadis, Rashida Pramanik, David Baudry, Sang Hyuck Lee, Kristie Wood, Lu Liu, Seth Seegobin, Gregory A. Michelotti, Su M. Lwin, Evangelos A. A. Christou, Charles J. Curtis, Emanuele Rinaldis, Alka Saxena, Susan Holmes, Matthew Harries, Ioulios Palamaras, Fiona Cunningham, Gregory Parkins, Manjit Kaur, Paul Farrant, Andrew McDonagh, Andrew Messenger, Jennifer Jones, Victoria Jolliffe, Iaisha Ali, Michael Ardern-Jones, Charles Mitchell, Nigel Burrows, Ravinder Atkar, Cedric Banfield, Anton Alexandroff, Caroline Champagne, Hywel L. Cooper, Sergio Vañó-Galván, Ana Maria Molina-Ruiz, Nerea Ormaechea Perez, Girish K. Patel, Abby Macbeth, Melanie Page, Alyson Bryden, Megan Mowbray, Shyamal Wahie, Keith Armstrong, Nicola Cooke, Mark Goodfield, Irene Man, David Berker, Giles Dunnill, Anita Takwale, Archana Rao, Tee-Wei Siah, Rodney Sinclair, Martin S. Wade, Ncoza C. Dlova, Jane Setterfield, Fiona Lewis, Kapil Bhargava, Niall Kirkpatrick, Xavier Estivill, Catherine M. Stefanato, Carsten Flohr, Timothy Spector, Fiona M. Watt, Catherine H. Smith, Jonathan N. Barker, David A. Fenton, Michael A. Simpson and John A. McGrath ()
Additional contact information
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

Nature Communications, 2019, vol. 10, issue 1, 1-9

Abstract: 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.

Date: 2019
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DOI: 10.1038/s41467-019-09117-w

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