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Genome-wide association meta-analysis identifies 29 new acne susceptibility loci

Acne vulgaris is a highly heritable skin disorder that primarily impacts facial skin. Severely inflamed lesions may leave permanent scars that have been associated with long-term psychosocial consequences. Here, we perform a GWAS meta-analysis comprising 20,165 individuals with acne from nine indepe...

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Autores principales: Mitchell, Brittany L., Saklatvala, Jake R., Dand, Nick, Hagenbeek, Fiona A., Li, Xin, Min, Josine L., Thomas, Laurent, Bartels, Meike, Jan Hottenga, Jouke, Lupton, Michelle K., Boomsma, Dorret I., Dong, Xianjun, Hveem, Kristian, Løset, Mari, Martin, Nicholas G., Barker, Jonathan N., Han, Jiali, Smith, Catherine H., Rentería, Miguel E., Simpson, Michael A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821634/
https://www.ncbi.nlm.nih.gov/pubmed/35132056
http://dx.doi.org/10.1038/s41467-022-28252-5
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author Mitchell, Brittany L.
Saklatvala, Jake R.
Dand, Nick
Hagenbeek, Fiona A.
Li, Xin
Min, Josine L.
Thomas, Laurent
Bartels, Meike
Jan Hottenga, Jouke
Lupton, Michelle K.
Boomsma, Dorret I.
Dong, Xianjun
Hveem, Kristian
Løset, Mari
Martin, Nicholas G.
Barker, Jonathan N.
Han, Jiali
Smith, Catherine H.
Rentería, Miguel E.
Simpson, Michael A.
author_facet Mitchell, Brittany L.
Saklatvala, Jake R.
Dand, Nick
Hagenbeek, Fiona A.
Li, Xin
Min, Josine L.
Thomas, Laurent
Bartels, Meike
Jan Hottenga, Jouke
Lupton, Michelle K.
Boomsma, Dorret I.
Dong, Xianjun
Hveem, Kristian
Løset, Mari
Martin, Nicholas G.
Barker, Jonathan N.
Han, Jiali
Smith, Catherine H.
Rentería, Miguel E.
Simpson, Michael A.
author_sort Mitchell, Brittany L.
collection PubMed
description Acne vulgaris is a highly heritable skin disorder that primarily impacts facial skin. Severely inflamed lesions may leave permanent scars that have been associated with long-term psychosocial consequences. Here, we perform a GWAS meta-analysis comprising 20,165 individuals with acne from nine independent European ancestry cohorts. We identify 29 novel genome-wide significant loci and replicate 14 of the 17 previously identified risk loci, bringing the total number of reported acne risk loci to 46. Using fine-mapping and eQTL colocalisation approaches, we identify putative causal genes at several acne susceptibility loci that have previously been implicated in Mendelian hair and skin disorders, including pustular psoriasis. We identify shared genetic aetiology between acne, hormone levels, hormone-sensitive cancers and psychiatric traits. Finally, we show that a polygenic risk score calculated from our results explains up to 5.6% of the variance in acne liability in an independent cohort.
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spelling pubmed-88216342022-02-18 Genome-wide association meta-analysis identifies 29 new acne susceptibility loci Mitchell, Brittany L. Saklatvala, Jake R. Dand, Nick Hagenbeek, Fiona A. Li, Xin Min, Josine L. Thomas, Laurent Bartels, Meike Jan Hottenga, Jouke Lupton, Michelle K. Boomsma, Dorret I. Dong, Xianjun Hveem, Kristian Løset, Mari Martin, Nicholas G. Barker, Jonathan N. Han, Jiali Smith, Catherine H. Rentería, Miguel E. Simpson, Michael A. Nat Commun Article Acne vulgaris is a highly heritable skin disorder that primarily impacts facial skin. Severely inflamed lesions may leave permanent scars that have been associated with long-term psychosocial consequences. Here, we perform a GWAS meta-analysis comprising 20,165 individuals with acne from nine independent European ancestry cohorts. We identify 29 novel genome-wide significant loci and replicate 14 of the 17 previously identified risk loci, bringing the total number of reported acne risk loci to 46. Using fine-mapping and eQTL colocalisation approaches, we identify putative causal genes at several acne susceptibility loci that have previously been implicated in Mendelian hair and skin disorders, including pustular psoriasis. We identify shared genetic aetiology between acne, hormone levels, hormone-sensitive cancers and psychiatric traits. Finally, we show that a polygenic risk score calculated from our results explains up to 5.6% of the variance in acne liability in an independent cohort. Nature Publishing Group UK 2022-02-07 /pmc/articles/PMC8821634/ /pubmed/35132056 http://dx.doi.org/10.1038/s41467-022-28252-5 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Mitchell, Brittany L.
Saklatvala, Jake R.
Dand, Nick
Hagenbeek, Fiona A.
Li, Xin
Min, Josine L.
Thomas, Laurent
Bartels, Meike
Jan Hottenga, Jouke
Lupton, Michelle K.
Boomsma, Dorret I.
Dong, Xianjun
Hveem, Kristian
Løset, Mari
Martin, Nicholas G.
Barker, Jonathan N.
Han, Jiali
Smith, Catherine H.
Rentería, Miguel E.
Simpson, Michael A.
Genome-wide association meta-analysis identifies 29 new acne susceptibility loci
title Genome-wide association meta-analysis identifies 29 new acne susceptibility loci
title_full Genome-wide association meta-analysis identifies 29 new acne susceptibility loci
title_fullStr Genome-wide association meta-analysis identifies 29 new acne susceptibility loci
title_full_unstemmed Genome-wide association meta-analysis identifies 29 new acne susceptibility loci
title_short Genome-wide association meta-analysis identifies 29 new acne susceptibility loci
title_sort genome-wide association meta-analysis identifies 29 new acne susceptibility loci
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821634/
https://www.ncbi.nlm.nih.gov/pubmed/35132056
http://dx.doi.org/10.1038/s41467-022-28252-5
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