Abstract Text: Acne vulgaris is a common skin disease that affects >85% of teenage young adults where >8% develop severe lesions that leaves permanent scars. Genetic heritability studies of acne in twin cohorts have shown that the heritability for acne is 80%. Numerous genome-wide association studies (GWAS) have shown that 14-29 loci are associated with increased risk of developing acne when compared to healthy individuals. Here, we performed a multi-ethnic GWAS analysis to capture disease severity in acne patients by using individuals with normal acne as a control. Our cohort size consists of 1279 control acne and 538 severe cases with a total of 1817 individuals from Nashville Biosciences. We replicated this analysis using FinnGen cohorts. We therefore identified a novel locus that crossed the 5x10-8 threshold and several loci with suggestive association level. We also performed mendelian randomization and colocalization using eQTLs to identify causal genes. Lastly, we performed gene-set enrichment analysis to implicate biological pathways that drive disease severity in Acne.
