New: Researchers ID Polygenic Signature in Sporadic HS

Key Takeaways

• New research has uncovered a polygenic score associated with sporadic hidradenitis suppurativa (HS).

• Risk variants were enriched in genes encoding cell adhesion proteins.

• The authors recommended larger studies before applying findings clinically. 

Researchers on a new study proposed a polygenic score (PGS) model that points to a genetic contribution to susceptibility in sporadic hidradenitis suppurativa (spHS).

Publishing in the Journal of Investigative Dermatology, the research team looked at genetic data from 256 patients with spHS and 1,686 healthy controls  from six European clinical centers. They used clumping and thresholding technique to calculate PGSs on 70% of the cohort (the remaining 30% were for validation). They also conducted an enrichment analysis via the PANTHER classification system.

The model proposed by the team incorporated 923 single nucleotide polymorphisms (SNPs) and showed statistically significant association with spHS (P = 0.02). PGS retained its statistical significance after adjustment for age, sex, and ancestry. The authors also reported enrichment in genes coding for cell adhesion among variants contributing to the score.

“The statistically significant age-, sex-, and ancestry-adjusted association of our developed PGSs in spHS allows us to attribute a genetic contribution to the susceptibility of spHS,” the authors wrote. “Although this study developed a polygenic model associated with spHS, the low number of patients enrolled is a limitation," they continued. "However, we believe that with larger experimental datasets, our model has the potential to serve as a valuable tool for predicting spHS states in future studies.”

Source: Moltrasio C, et al. Journal of Investigative Dermatology. 2025. doi:10.1016/j.jid.2024.11.019