@article{b9be636804534364bdbd64569ae54564,
title = "Genome-wide association meta-analysis identifies 29 new acne susceptibility loci",
abstract = "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.",
author = "Mitchell, {Brittany L.} and Saklatvala, {Jake R.} and Nick Dand and Hagenbeek, {Fiona A.} and Xin Li and Min, {Josine L.} and Laurent Thomas and Meike Bartels and {Jan Hottenga}, Jouke and Lupton, {Michelle K.} and Boomsma, {Dorret I.} and Xianjun Dong and Kristian Hveem and Mari L{\o}set and Martin, {Nicholas G.} and Barker, {Jonathan N.} and Jiali Han and Smith, {Catherine H.} and Renter{\'i}a, {Miguel E.} and Simpson, {Michael A.}",
note = "Funding Information: We thank the participants who donated their time, life experiences and DNA to this research, and the clinical and scientific teams that worked with them. We acknowledge support from the National Institute for Health Research (NIHR), through the NIHR Biomedical Research Centre based at Guy?s and St Thomas? NHS Foundation Trust and King?s College London. Health Data Research UK (MR/S003126/1). Acknowledgments for each cohort that contributed to this meta-analysis can be found in the supplementary information. Funding Information: We thank the participants who donated their time, life experiences and DNA to this research, and the clinical and scientific teams that worked with them. We acknowledge support from the National Institute for Health Research (NIHR), through the NIHR Biomedical Research Centre based at Guy{\textquoteright}s and St Thomas{\textquoteright} NHS Foundation Trust and King{\textquoteright}s College London. Health Data Research UK (MR/S003126/1). Acknowledgments for each cohort that contributed to this meta-analysis can be found in the supplementary information. Publisher Copyright: {\textcopyright} 2022, The Author(s).",
year = "2022",
month = dec,
doi = "10.1038/s41467-022-28252-5",
language = "English",
volume = "13",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "Nature Publishing Group",
number = "1",
}
