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

Tziotzios, Christos, Petridis, Christos, Dand, Nick, Ainali, Chrysanthi, Saklatvala, Jake R, Pullabhatla, Venu, Onoufriadis, Alexandros, Pramanik, Rashida, Baudry, David, Lee, Sang Hyuck, Wood, Kristie, Liu, Lu, Seegobin, Seth, Michelotti, Gregory A, Lwin, Su M, Christou, Evangelos A A, Curtis, Charles J, de Rinaldis, Emanuele, Saxena, Alka, Holmes, Susan, Harries, Matthew, Palamaras, Ioulios, Cunningham, Fiona, Parkins, Gregory, Kaur, Manjit R, Farrant, Paul, McDonagh, Andrew, Messenger, Andrew, Jones, Jennifer, Jolliffe, Victoria, Ali, Iaisha, Ardern-Jones, Michael, Mitchell, Charles, Burrows, Nigel, Atkar, Ravinder, Banfield, Cedric, Alexandroff, Anton, Champagne, Caroline, Cooper, Hywel L, Vañó-Galván, Sergio, Molina-Ruiz, Ana Maria, Perez, Nerea Ormaechea, Patel, Girish K, Macbeth, Abby, Page, Melanie, Bryden, Alyson, Mowbray, Megan, Wahie, Shyamal, Armstrong, Keith, Cooke, Nicola, Goodfield, Mark, Man, Irene, de Berker, David, Dunnill, Giles, Takwale, Anita, Rao, Archana, Siah, Tee-Wei, Sinclair, Rodney, Wade, Martin S, Dlova, Ncoza C, Setterfield, Jane, Lewis, Fiona, Bhargava, Kapil, Kirkpatrick, Niall, Estivill, Xavier, Stefanato, Catherine M, Flohr, Carsten, Spector, Timothy, Watt, Fiona M, Smith, Catherine H, Barker, Jonathan N, Fenton, David A, Simpson, Michael A and McGrath, John A (2019) Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02. Nature communications, 10 (1). p. 1150. ISSN 2041-1723. This article is available to all UHB staff and students via ASK Discovery tool http://tinyurl.com/z795c8c by using their UHB Athens login IDs

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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.

Item Type: Article
Additional Information: This article is available to all UHB staff and students via ASK Discovery tool http://tinyurl.com/z795c8c by using their UHB Athens login IDs
Subjects: WR Skin. Dermatology
Divisions: Ambulatory Care > Dermatology
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Depositing User: Miss Emily Johnson
Date Deposited: 15 Mar 2019 14:23
Last Modified: 15 Mar 2019 14:23
URI: http://www.repository.uhblibrary.co.uk/id/eprint/1922

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