Lichtenberger, Ramtin and Simpson, Michael A. and Smith, Catherine and Barker, Jonathan and Navarini, Alexander A.. (2017) Genetic architecture of acne vulgaris. Journal of the European Academy of Dermatology & Venereology : JEADV, 31 (12). pp. 1978-1990.
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Official URL: https://edoc.unibas.ch/72855/
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Abstract
Acne vulgaris is a ubiquitary skin disease characterized by chronic inflammation of the pilosebaceous unit resulting from bacterial colonization of hair follicles by Propionibacterium acnes, androgen-induced increased sebum production, altered keratinization and inflammation. Here, we review our current understanding of the genetic architecture of this intriguing disease. We analysed genomewide association studies (GWAS) and candidate genes studies for acne vulgaris. Moreover, we included GWAS studies for the associated disease polycystic ovary syndrome (PCOS). Overall, the available data revealed sixteen genetic loci flagged by single nucleotide polymorphisms (SNPs), none of which has been confirmed yet by independent studies. Moreover, a GWAS for PCOS identified 21 susceptible loci. The genetic architecture is complex which has been revealed by GWAS. Further and larger studies in different populations are required to confirm or disprove results from candidate gene studies as well to identify signals that may overlap between different populations. Finally, studies on rare genetic variants in acne and associated diseases like PCOS may deepen our understanding of its pathogenesis.
Faculties and Departments: | 03 Faculty of Medicine > Bereich Spezialfächer (Klinik) > Dermatologie USB > Dermatologie (Navarini) 03 Faculty of Medicine > Departement Klinische Forschung > Bereich Spezialfächer (Klinik) > Dermatologie USB > Dermatologie (Navarini) |
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UniBasel Contributors: | Navarini, Alexander |
Item Type: | Article, refereed |
Article Subtype: | Research Article |
ISSN: | 1468-3083 |
Note: | Publication type according to Uni Basel Research Database: Journal article |
Identification Number: |
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Last Modified: | 05 Apr 2020 14:45 |
Deposited On: | 05 Apr 2020 14:45 |
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