Hidradenitis Suppurativa (HS) is a chronic inflammatory skin disease clinically characterized by recurrent painful deep-seated nodules and abscesses commonly found in the apocrine-bearing localization of the body. This cumbersome disorder has a heritability estimated at 80%. While more than one-third of patients has a family history of HS, less than 7% of them showed mutations in one of the three genes encoding the gamma-secretase subunits that have been associated with autosomal dominant forms of the disease. This suggests that many other genes largely contribute to the disease vulnerability. Here, we used an ongoing Genome-Wide Association study (GWAS) in an Italian population of 152 HS patients and 189 unaffected controls to calculate Polygenic Risk Scores (PRS) for HS-associated comorbidities, including psoriasis, atopic dermatitis, Crohn’s disease, and type 2 diabetes. We observed that individuals with HS had a higher PRS for psoriasis than controls (p-value = 0.014). Although not statistically significant, PRS for Crohn’s disease was also more elevated in HS patients than in healthy individuals (p-value = 0.08). These results suggest that a genetic predisposition to HS may be mediated by common variants associated with psoriasis and Crohn’s disease.

ESDR311 - PRS analysis in patients with hidradenitis suppurativa suggests a shared genetic vulnerability with psoriasis and Crohn’s disease

The scientific meeting of the European Society for Dermatological Research (ESDR) is held yearly, usually in September. With an international attendance of more than 1000 skin scientists from around the globe, the four-day event includes short oral presentations from peer-reviewed abstracts, keynote lectures from international experts, sponsored symposia, satellite programs, educational events as well as an important focus on posters, networking and building collaborations amongst scientists. For more information about this year’s meeting visit our website.