Premium
Genetic architecture of acne vulgaris
Author(s) -
Lichtenberger R.,
Simpson M.A.,
Smith C.,
Barker J.,
Navarini A.A.
Publication year - 2017
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1111/jdv.14385
Subject(s) - genome wide association study , genetic architecture , single nucleotide polymorphism , acne , polycystic ovary , candidate gene , snp , genetics , medicine , genetic association , disease , biology , gene , genotype , phenotype , pathology , diabetes mellitus , endocrinology , insulin resistance
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 ( SNP s), 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.