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

Brittany L. Mitchell; Jake R. Saklatvala; Nick Dand; Fiona A. Hagenbeek; Xin Li; Josine L. Min; Laurent Thomas; Meike Bartels; Jouke Jan Hottenga; Michelle K. Lupton; Dorret I. Boomsma; Xianjun Dong; Kristian Hveem; Mari Løset; Nicholas G. Martin; Jonathan N. Barker; Jiali Han; Catherine H. Smith; Miguel E. Rentería; Michael A. Simpson

doi:10.1038/s41467-022-28252-5

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

Brittany L. Mitchell
, Jake R. Saklatvala
, Nick Dand
, Fiona A. Hagenbeek
, Xin Li
, Josine L. Min
, Laurent Thomas
, Meike Bartels
, Jouke Jan Hottenga
, Michelle K. Lupton
, Dorret I. Boomsma
, Xianjun Dong
, Kristian Hveem
, Mari Løset
, Nicholas G. Martin
, Jonathan N. Barker
, Jiali Han
, Catherine H. Smith
, Miguel E. Rentería^*
, Michael A. Simpson^*

^*Corresponding author for this work

Queensland Institute of Medical Research
Queensland University of Technology
King's College London
Health Data Research UK
Vrije Universiteit Amsterdam
Amsterdam UMC
Indiana University-Purdue University Indianapolis
Indiana University Bloomington
University of Bristol
Norwegian University of Science and Technology
Brigham and Women’s Hospital
Nord-Trøndelag Hospital Trust

Research output: Contribution to journal › Article › peer-review

38 Citations (Scopus)

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.

Original language	English
Article number	702
Journal	Nature Communications
Volume	13
Issue number	1
DOIs	https://doi.org/10.1038/s41467-022-28252-5
Publication status	Published - 7 Feb 2022
Externally published	Yes

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Mitchell, B. L., Saklatvala, J. R., Dand, N., Hagenbeek, F. A., Li, X., Min, J. L., Thomas, L., Bartels, M., Jan Hottenga, J., Lupton, M. K., Boomsma, D. I., Dong, X., Hveem, K., Løset, M., Martin, N. G., Barker, J. N., Han, J., Smith, C. H., Rentería, M. E., & Simpson, M. A. (2022). Genome-wide association meta-analysis identifies 29 new acne susceptibility loci. Nature Communications, 13(1), Article 702. https://doi.org/10.1038/s41467-022-28252-5

@article{69cf7f8f6c4c46a5afcc33416968ac97,

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 = "Publisher Copyright: {\textcopyright} 2022, The Author(s).",

year = "2022",

month = feb,

day = "7",

doi = "10.1038/s41467-022-28252-5",

language = "English",

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Mitchell, BL, Saklatvala, JR, Dand, N, Hagenbeek, FA, Li, X, Min, JL, Thomas, L, Bartels, M, Jan Hottenga, J, Lupton, MK, Boomsma, DI, Dong, X, Hveem, K, Løset, M, Martin, NG, Barker, JN, Han, J, Smith, CH, Rentería, ME & Simpson, MA 2022, 'Genome-wide association meta-analysis identifies 29 new acne susceptibility loci', Nature Communications, vol. 13, no. 1, 702. https://doi.org/10.1038/s41467-022-28252-5

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T1 - Genome-wide association meta-analysis identifies 29 new acne susceptibility loci

AU - Mitchell, Brittany L.

AU - Saklatvala, Jake R.

AU - Dand, Nick

AU - Hagenbeek, Fiona A.

AU - Li, Xin

AU - Min, Josine L.

AU - Thomas, Laurent

AU - Bartels, Meike

AU - Jan Hottenga, Jouke

AU - Lupton, Michelle K.

AU - Boomsma, Dorret I.

AU - Dong, Xianjun

AU - Hveem, Kristian

AU - Løset, Mari

AU - Martin, Nicholas G.

AU - Barker, Jonathan N.

AU - Han, Jiali

AU - Smith, Catherine H.

AU - Rentería, Miguel E.

AU - Simpson, Michael A.

PY - 2022/2/7

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AB - 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.

UR - https://www.scopus.com/pages/publications/85124272370

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DO - 10.1038/s41467-022-28252-5

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SN - 2041-1723

VL - 13

JO - Nature Communications

JF - Nature Communications

IS - 1

M1 - 702

ER -

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

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