Two Genetic Variants Implicated in Risk of Hidradenitis Suppurativa

A genome-wide association study (GWAS) has identified 2 genetic variants implicated in the increased risk of hidradenitis suppurativa, a chronic inflammatory follicular disease that causes the formation of painful lumps under the skin. Researchers published their findings in JAMA Dermatology.

“This discovery is highly relevant because these changes may affect nearby genes in a way that leads to improper development of hair follicles and predispose them to the rupture,” said study co-senior author Christopher Sayed, MD, of the University of North Carolina School of Medicine, Chapel Hill, North Carolina. “This results in inflammation and chronic wound formation, which are the classic findings of hidradenitis suppurativa.”

The study began with a GWAS at the University of North Carolina that compared 720 patients with hidradenitis suppurative with controls from the National Longitudinal Study of Adolescent to Adult Health. Researchers next meta-analyzed results with GWAS data from Finland (FinnGen), the United Kingdom (UK BioBank), and Vanderbilt University Medical Center (BioVU), Nashville, Tennessee.

Genetic variants associated with an increased risk of hidradenitis suppurativa were rs10512572 near the SOX9 gene and rs17090189 near the KLF5 gene, according to the study. The two genes are believed to play a role in hair follicle and epidermal development.

“While more studies are needed to understand how DNA variants near SOX9 and KLF5 contribute to the pathophysiology of hidradenitis suppurativa, both genes are potentially highly relevant and have not previously been linked to the condition,” said co-senior author Karen Mohlke, PhD, of the University of North Carolina.

In a genetic correlation analysis, researchers found that inflammatory bowel disease, psoriasis, and type 2 diabetes may share certain genetic factors with hidradenitis suppurativa. However, additional studies are needed to shed light on potential biological links, the team advised.

“As is often the case in research, new discoveries lead to many new questions,” said co-senior author Yun Li, PhD, of the University of North Carolina. “We plan to expand our work to larger and more diverse cohorts to identify additional hidradenitis suppurativa risk loci.”

References

Sun Q, Broadaway KA, Edmiston SN, et al. Genetic variants associated with hidradenitis suppurativa. JAMA Dermatol. 2023;159(9):930-938. doi:10.1001/jamadermatol.2023.2217

Researchers discover genetic locations for increased risk of hidradenitis suppurativa. News release. University of North Carolina Health Care; July 27, 2023. Accessed November 10, 2023.