Genome-Wide Meta-Analysis Identifies Novel Loci Conferring Risk of Acne Vulgaris

    March 2023 in “ European Journal of Human Genetics ”
    Maris Teder‐Laving, Mart Kals, Anu Reigo, Riin Ehin, Telver Objärtel, Mariliis Vaht, Tiit Nikopensius, Andres Metspalu, Külli Kingo
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    TLDR New genetic factors linked to acne risk were discovered, highlighting the role of certain pathways and genes.
    A genome-wide meta-analysis involving 34,422 individuals with acne and 364,991 controls identified four novel genetic loci associated with acne vulgaris, in addition to replicating 19 previously known loci, totaling 50 risk loci. The study explains 9.4% of the phenotypic variance in acne and shows that individuals in the top 5% of genetic risk have a 1.62-fold increased risk of developing acne. The findings emphasize the role of the Wnt and MAPK pathways and genetic variations affecting hair follicle structure in acne predisposition. Notably, two novel loci are linked to genes involved in lipid biosynthesis.
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