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Variants at Two Loci Associated With Hidradenitis Suppurativa Risk

Two hidradenitis suppurativa-associated loci identified in meta-analysis of four studies, with variants located near SOX9 and KLF5 genes

By Dermsquared Editorial Team | July 27, 2023

WEDNESDAY, July 26, 2023  -- Common variants located near the SOX9 and KLF5 genes are associated with hidradenitis suppurativa (HS) risk, according to a study published online July 26 in JAMA Dermatology.

Quan Sun, from the University of North Carolina at Chapel Hill, and colleagues identified genetic variants associated with HS in a genetic association study involving 753 patients with HS from August 2018 to July 2021. After quality control, a genome-wide association study was performed for 720 patients with controls from the Add Health study, and a meta-analysis was performed with data from two large biobanks: 247 cases from the U.K. Biobank and 673 from FinnGen. Replication testing was performed for variants at three loci in 290 cases from the BioVU biobank.

The analysis included 720 patients. The researchers identified and replicated two HS-associated loci in a meta-analysis of the four studies, with lead variants rs10512572 and rs17090189 near the SOX9 and KLF5 genes, respectively. The location of variants at these loci was in enhancer regulatory elements identified in skin tissue.

"Identifying variant associations near candidate genes with plausible roles in disease biology does not prove a causal effect of these variants or genes on disease risk," the authors write. "Functional studies must assess whether the HS-associated variants and surrounding regulatory elements can alter SOX9 and KLF5 function or expression and, subsequently, affect HS pathology."

Several authors disclosed ties to the biopharmaceutical industry.


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