Journal article
Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02
C Tziotzios, C Petridis, N Dand, C Ainali, JR Saklatvala, V Pullabhatla, A Onoufriadis, R Pramanik, D Baudry, SH Lee, K Wood, L Liu, S Seegobin, GA Michelotti, SM Lwin, EAA Christou, CJ Curtis, E de Rinaldis, A Saxena, S Holmes Show all
Nature Communications | NATURE PORTFOLIO | Published : 2019
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 misse..
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Awarded by Department of Health and Social Care
Funding Acknowledgements
We acknowledge financial support from the Department of Health via the National Institute for Health Research (NIHR) Rare Diseases Translational Research Collaboration (NIHR-RD TRC) and by the NIHR Biomedical Research Centre based at Guy's and St Thomas' NHS Foundation Trust and King's College London. Samples and data from Spanish patients included in this study were provided by the Hospital Universitario Ramon Y Cajal-IRYCIS Biobank integrated in the Spanish Hospital Platform Biobanks Network and were processed following standard operation procedures with appropriate approval of the Ethical and Scientific Committees. We thank the study participants in the UK and Spain for their help. Data used for replication in this research was provided by the INMA-INfancia y Medio Ambiente [Environment and Childhood] Project (www.proyectoinma.org), which is supported in part by funds. We are thankful to the English Longitudinal Study of Ageing (ELSA) for providing population control genotyping data. We thank the NIHR Rare Genetic Disease Research Consortium Agreement Team, especially Gillian Borthwick, for their help with setting up multiple UK research participating sites. We thank Dr. Sophia Karagiannis, Dr. Francesca Capon, Prof Jemma Mellerio and Dr. Ian White for their advice and guidance. We are thankful to Prof Kathryn Lewis, Dr. Raquel Iniesta, Dr. Ken Hanscombe and Dr. Leo Bottolo for their input and advice with the statistical analysis aspects of the metabolomic exploration. We thank the numerous research assistants and nurses, especially Teena Mackenzie, Sophie Devine, Ruth Joslyn, Sonia Baryschpolec, Anne Thomson, Pauline Buchanan and Caroline White for their help with recruitment. Very special thanks go to Dr. Dimitra Dritsa for her continuous support and input throughout this work.