Genome-Wide Association Study in Frontal Fibrosing Alopecia Identifies Four Susceptibility Loci Including HLA-B*07:02

March 2019 in “ Nature Communications ”

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

frontal fibrosing alopecia FFA HLA-B*07:02 CYP1B1 immune response pathways genome-wide association study genetic predisposition immuno-inflammatory disorder

Studysummary This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.

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The study investigated the genetic basis of frontal fibrosing alopecia (FFA), a type of hair loss primarily affecting women, through genome-wide association studies involving 844 cases and 3,760 controls from the UK, and 172 cases and 385 controls from Spain. The research identified four genomic loci associated with FFA: 2p22.2, 6p21.1, 8q24.22, and 15q2.1. Notably, the HLA-B*07:02 allele at the 6p21.1 locus was implicated as a significant factor. Additionally, a potential causal variant in the CYP1B1 gene at 2p22.1 was identified. Transcriptomic analysis of affected scalp tissue revealed an overrepresentation of immune response pathways, suggesting that FFA is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07:02 allele.

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