Evidence map›Paper›PMID 30850646›Full record

ArticleNature communications2019

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 and 64 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed, 2 pooled it
16.5field-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

42 citing papers in PubMed, 2 syntheses or guidelines pooled it, 118 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Review
  5. Article
  6. Review
  7. Article
  8. Article
  9. Review
  10. Frontal Fibrosing Alopecia: An Update.American journal of clinical dermatology · 2025
    Review
  11. Article
  12. The Aryl Hydrocarbon Receptor (AHR): Peacekeeper of the Skin.International journal of molecular sciences · 2025
    Review
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Review
  19. 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

74 authors at 20 institutions in 5 countries.

Christos TziotziosSt. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK. christos.tziotzios@kcl.ac.uk.ORCID http://orcid.org/0000-0003-1662-4494
Christos PetridisDepartment of Medical and Molecular Genetics, King's College London, Guy's Hospital, London, SE1 9RT, UK.
Nick DandDepartment of Medical and Molecular Genetics, King's College London, Guy's Hospital, London, SE1 9RT, UK.ORCID http://orcid.org/0000-0002-1805-6278
Chrysanthi AinaliSt. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK.
Jake R SaklatvalaDepartment of Medical and Molecular Genetics, King's College London, Guy's Hospital, London, SE1 9RT, UK.
Venu PullabhatlaUK NIHR GSTFT/KCL Comprehensive Biomedical Research Centre, Guy's & St. Thomas' NHS Foundation Trust, London, SE1 9RT, UK.
Alexandros OnoufriadisSt. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK.
Rashida PramanikUK NIHR GSTFT/KCL Comprehensive Biomedical Research Centre, Guy's & St. Thomas' NHS Foundation Trust, London, SE1 9RT, UK.
David BaudrySt. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK.
Sang Hyuck LeeNIHR Maudsley Biomedical Research Centre at South London and Maudsley NHS Foundation Trust (SLaM) & Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College London, Denmark Hill Campus, London, SE5 8EF, UK.
Kristie WoodUK NIHR GSTFT/KCL Comprehensive Biomedical Research Centre, Guy's & St. Thomas' NHS Foundation Trust, London, SE1 9RT, UK.
Lu LiuNational Diagnostic EB Laboratory, St. Thomas Hospital, London, SE1 7EH, UK.
Seth SeegobinSt. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK.
Gregory A MichelottiMetabolon, Inc., Morrisville, NC, 27560, USA.
Su M LwinSt. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK.
Evangelos A A ChristouSt. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK.
Charles J CurtisUK NIHR GSTFT/KCL Comprehensive Biomedical Research Centre, Guy's & St. Thomas' NHS Foundation Trust, London, SE1 9RT, UK.
Emanuele de RinaldisUK NIHR GSTFT/KCL Comprehensive Biomedical Research Centre, Guy's & St. Thomas' NHS Foundation Trust, London, SE1 9RT, UK.
Alka SaxenaUK NIHR GSTFT/KCL Comprehensive Biomedical Research Centre, Guy's & St. Thomas' NHS Foundation Trust, London, SE1 9RT, UK.
Susan HolmesAlan Lyell Centre for Dermatology, Queen Elizabeth University Hospital, Glasgow, G51 4TF, UK.
Matthew HarriesThe Dermatology Centre, The University of Manchester, Salford Royal NHS Foundation Trust, Salford, M6 8HD, UK.
Ioulios PalamarasDepartment of Dermatology, Barnet General Hospital, Royal Free Foundation Trust, London, EN5 3DJ, UK.
Fiona CunninghamAlan Lyell Centre for Dermatology, Queen Elizabeth University Hospital, Glasgow, G51 4TF, UK.
Gregory ParkinsAlan Lyell Centre for Dermatology, Queen Elizabeth University Hospital, Glasgow, G51 4TF, UK.
Manjit KaurDepartment of Dermatology, Solihull Hospital, Solihull, B91 2JL, UK.
Paul FarrantDepartment of Dermatology, Brighton and Sussex University Hospitals NHS Trust, Brighton, BN2 3EW, UK.
Andrew McDonaghDepartment of Dermatology, Royal Hallamshire Hospital, Sheffield, S10 2JF, UK.
Andrew MessengerDepartment of Dermatology, Royal Hallamshire Hospital, Sheffield, S10 2JF, UK.
Jennifer JonesDepartment of Dermatology, Royal Free Hospital, London, NW3 2QG, UK.
Victoria JolliffeDepartment of Dermatology, Royal London Hospital, Barts Health NHS Trust, London, E1 1BB, UK.
Iaisha AliDepartment of Dermatology, Imperial College Healthcare NHS Trust, London, W12 0HS, UK.
Michael Ardern-JonesDepartment of Dermatology, University Hospitals Southampton NHS Foundation Trust, Southampton, SO16 6YD, UK.ORCID http://orcid.org/0000-0003-1466-2016
Charles MitchellDepartment of Dermatology, Portsmouth Hospitals NHS Trust, Portsmouth, PO6 3LY, UK.
Nigel BurrowsDepartment of Dermatology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK.
Ravinder AtkarDepartment of Dermatology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK.
Cedric BanfieldDepartment of Dermatology, Peterborough City Hospital, Peterborough, PE3 9GZ, UK.
Anton AlexandroffDepartment of Dermatology, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester, LE3 9QP, UK.
Caroline ChampagneDepartment of Dermatology, The Churchill Hospital, Oxford, OX3 7LE, UK.
Hywel L CooperDepartment of Dermatology, Portsmouth Hospitals NHS Trust, Portsmouth, PO6 3LY, UK.
Sergio Vañó-GalvánTrichology Unit, Dermatology Department, Ramon Y Cajal Hospital, University of Alcala, IRYCIS, Madrid, 28034, Spain.
Ana Maria Molina-RuizHospital Universitario Fundación Jiménez Díaz, Madrid, 28040, Spain.
Nerea Ormaechea PerezDepartment of Dermatology, Hospital Donostia, San Sebastian, 20014, Spain.
Girish K PatelHywel Dda University Health Board, Cardiff, SA31 3BB, UK.
Abby MacbethDepartment of Dermatology, Norfolk & Norwich University Hospitals NHS Foundation Trust, Norwich, NR4 7UY, UK.
Melanie PageDepartment of Dermatology, Norfolk & Norwich University Hospitals NHS Foundation Trust, Norwich, NR4 7UY, UK.
Alyson BrydenDepartment of Dermatology, Ninewells Hospital, Dundee, DD1 9SY, UK.
Megan MowbrayDepartment of Dermatology, Queen Margaret Hospital, Dunfermline, KY12 0SU, UK.
Shyamal WahieDepartment of Dermatology, County Durham and Darlington NHS Foundation Trust, Darlington, DL3 6HX, UK.
Keith ArmstrongDepartment of Dermatology, Royal Victoria Hospital, Belfast, BT12 6BA, UK.
Nicola CookeDepartment of Dermatology, Whiteabbey Hospital, Northern Health & Social Care Trust, Co Antrim, BT37 9RH, UK.
Mark GoodfieldDepartment of Dermatology, Chapel Allerton Hospital, Leeds teaching Hospitals NHS Trust, Leeds, LS7 4SA, UK.
Irene ManDepartment of Dermatology, Surrey and Sussex Healthcare NHS Trust, Surrey, RH1 5RH, UK.
David de BerkerDepartment of Dermatology, University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8HW, UK.
Giles DunnillDepartment of Dermatology, University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8HW, UK.
Anita TakwaleDepartment of Dermatology, Gloucestershire Hospitals NHS Foundation Trust, Gloucester, GL1 3NN, UK.
Archana RaoDepartment of Dermatology, Kingston Hospital NHS Foundation Trust, Kingston-upon-Thames, KT2 7QB, UK.
Tee-Wei SiahDepartment of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK.
Rodney SinclairDepartment of Dermatology, University of Melbourne, Melbourne, VIC 3010, Australia.
Martin S WadeThe London Skin and Hair Clinic, London, WC1V 7DN, UK.
Ncoza C DlovaDepartment of Dermatology, School of Clinical Medicine, Nelson R Mandela School of Medicine, Durban, 4001, South Africa.
Jane SetterfieldSt. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK.
Fiona LewisSt. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK.
Kapil BhargavaSt. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK.
Niall KirkpatrickCraniofacial Surgery Unit, Chelsea & Westminster Hospital, London, SW10 9NH, UK.
Xavier EstivillGenetics Unit, Dexeus Women's Health, Barcelona, 08028, Spain.ORCID http://orcid.org/0000-0002-0723-2256
Catherine M StefanatoDepartment of Dermatopathology, St. John's Institute of Dermatology, St. Thomas' Hospital, London, SE1 7EH, UK.
Carsten FlohrSt. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK.
Timothy SpectorThe Department of Twin Research & Genetic Epidemiology, King's College London, London, SE1 7EH, UK.
Fiona M WattCentre for Stem Cells and Regenerative Medicine, King's College London, Guy's Hospital, London, SE1 9RT, UK.ORCID http://orcid.org/0000-0001-9151-5154
Catherine H SmithSt. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK.
Jonathan N BarkerSt. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK.
David A FentonSt. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK.
Michael A SimpsonDepartment of Medical and Molecular Genetics, King's College London, Guy's Hospital, London, SE1 9RT, UK.
John A McGrathSt. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK. john.mcgrath@kcl.ac.uk.ORCID http://orcid.org/0000-0002-3708-9964
Guy's Hospital · GBGuy's and St Thomas' NHS Foundation Trust · GBQueen Elizabeth University Hospital · GBCambridge University Hospitals NHS Foundation Trust · GBKing's College London · GBNorfolk and Norwich University Hospitals NHS Foundation Trust · GBPortsmouth Hospitals NHS Trust · GBRoyal Hallamshire Hospital · GBSt Thomas' Hospital · GBThe Royal Free Hospital · GBUniversity Hospitals Bristol NHS Foundation Trust · GBBarts Health NHS Trust · GBBiogipuzkoa Health Research Institute · ESChapel Allerton Hospital · GBChelsea and Westminster Hospital · GBChurchill Hospital · GBCounty Durham and Darlington NHS Foundation Trust · GBGloucestershire Hospitals NHS Foundation Trust · GBHospital Universitario Dexeus · ESHospital Universitario Fundación Jiménez Díaz · ES

Funding

Department of Health CDF-2014-07-037Medical Research Council MR/S003126/1
6 · The paper itself

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.

Indexed as

Genetic LociGenetic Predisposition to DiseaseAdaptive ImmunityAlopeciaCase-Control StudiesCohort StudiesCytochrome P-450 CYP1B1FemaleGene ExpressionGenome, HumanGenome-Wide Association StudyHLA-B7 AntigenHumansImmunity, InnatePolymorphism, Single NucleotideTranscriptomeCYP1B1 protein, humanCytochrome P-450 CYP1B1HLA-B*07:02 antigenHLA-B7 Antigen

Identifiers

PMID30850646
PMCPMC6408457
OpenAlexW2920959276

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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.