Genetic architecture of acne vulgaris

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.

What does acne genetics teach us about disease pathogenesis?

“…It has long been recognized from family and twin studies that acne vulgaris has a strong hereditary component . Family‐based case–control studies have highlighted that affected first‐degree relatives are a major risk factor for developing the disorder .…”

Tumor necrosis factor α‐308 G/A and interleukin 1 β‐511 C/T gene polymorphisms in patients with scarring acne

“…Genetic factors are considered to be important in acne pathogenesis as family history of severe acne is detected in some patients with severe acne . Polymorphisms of genes encoding important cytokines playing key roles in acne pathogenesis attract attention of researchers.…”

IL1A (‐889) gene polymorphism is associated with the effect of diet as a risk factor in Acne Vulgaris

“…The heritability of acne was proposed via multiple twins and family studies. Several genetic studies suggested the association of acne vulgaris with different gene polymorphisms and genotype distributions . The complex genetic architecture necessitates further studies in different populations to elucidate the genetic basis of acne vulgaris.…”