Genetic variants may indicate higher risk for hidradenitis suppurativa

Key takeaways:

• Common variants associated with hidradenitis suppurativa were located at chromosome 13 and chromosome 17 loci.
• These loci are located near the KLF5 and SOX9 genes, respectively.

Genetic variants located near KLF5 and SOX9 may be associated with a higher risk for hidradenitis suppurativa, according to a study.

“Strong evidence of heritability has been described in cohort and twin studies,” Quan Sun, BS, of the department of biostatistics at The University of North Carolina at Chapel Hill, and colleagues wrote concerning HS. “To better understand genetic factors that may underlie pathogenesis, we performed a [genome-wide association study (GWAS)] of 720 patients with HS.”

Of the 720 patients included in the analysis, the majority were Black (49.9%) followed by White (42.8%). The mean age where patients first developed symptoms was 20.3 years, whereas the mean age of enrollment in this study was 35.3 years. A large majority of patients were also women (79.7%).

Results showed that common variants associated with HS were located at chromosome 13 and chromosome 17 loci. These loci are located near the KLF5 and SOX9 genes, respectively, which signified a higher risk for HS.

SOX9, which encodes a transcription factor responsible for regulating several developmental processes, is expressed in the epidermal basal layer and outer root sheath of hair follicles. This gene is highly expressed in psoriasis and nonmelanoma skin cancers. The researchers found the lead variant near the SOX9 gene to be rs10512572, whereas candidate variants included rs17226067, rs17825774 and rs17825799.

KLF5 is vital to the integrity of the skin barrier. Lower expressions of KLF5 are associated with human diseases that exhibit disrupted epidermal sphingolipid secretion. The lead variant the researchers found near the KLF5 gene was rs17090189, whereas the candidate variant was rs61957178.

“In this genetic association study, as with all GWASs, 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 wrote. “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.”