Genetic architecture of acne vulgaris

Abstract

Background

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.

Objective

Here we review our current understanding of the genetic architecture of this intriguing disease and want to show rare and corresponding diseases like PCOS with acne vulgaris.

Methods

We conducted a data research identifying genome-wide association studies (GWAS), candidate genes studies as case reports for acne vulgaris. Moreover, we included GWAS for the PCOS as it revealed shared genes with acne vulgaris.

Results

The data research revealed from different ethnic populations sixteen genes with single nucleotide polymorphisms (SNPs), two repeat polymorphisms, one gene mutation as five diseases associated with acne vulgaris. Moreover, the GWAS PCOS identified twenty-six SNPs from twenty-one susceptible loci.

Conclusion

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.

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