Researchers found 12 new loci implicated in acne vulgaris development, according to a study recently published in Nature Communications. Prior to this study, only 5 genetic risk loci had been identified. The results indicate that skin structure and maintenance (particularly the pilosebaceous unit) affect genetic predisposition for acne vulgaris.
Investigators performed a genome-wide association study followed by meta-analysis with summary statistics from a prior study. A total of 3823 cases and 16,144 controls were included in the association study. Including the summary statistics from a previous study, the total sample size was 26,722.
Researchers found 20 independent association signals at 15 risk loci, including 12 which had not previously been linked to acne vulgaris.
They hypothesize that contributing variants disturb the coding region of WNT10A and a P63 transcription factor binding site in SEMA4B. At the 1q25 locus, risk alleles are linked to expression of LAMC2, where biallelic loss-of-function mutations lead to epidermolysis bullosa. There was no evidence of epistasis among the identified risk loci.
The 15 risk loci linked to acne vulgaris in this study account for approximately 3% of phenotypic variance. This information suggests that more loci contribute to acne vulgaris predisposition. Additionally, the risk loci were related to acne susceptibility in the European population. It is possible that trans-ethnic differences exist in genetic contributors to acne vulgaris predisposition. Further research is necessary to understand the hereditary nature of the disease more completely.
The researchers also concluded that novel acne vulgaris therapies should target hair follicle development and maintenance processes to supplement current therapies that focus on decreasing inflammation and bacterial colonization.
Petridis C, Navarini AA, Dand N, et al; Acne Genetic Study Group. Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne [published online December 12, 2018]. Nat Commun. doi: 10.1038/s41467-018-07459-5