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Inflammatory Skin Condition GWAS Leads to Common Variants, Candidate Genes

In JAMA Dermatology, investigators at the University of North Carolina at Chapel Hill and elsewhere search for genetic contributors to hidradenitis suppurativa, a chronic inflammatory skin condition marked by abscesses, cysts, and inflammatory "tunnels." Based on genotyping profiles for 720 individuals with hidradenitis supporativa and unaffected control individuals from the Add Health study, they identified risk variants near the SOX9 and KLF5 genes that were subsequently replicated in another 920 cases and almost 750,600 controls from the UK Biobank and FinnGen projects. "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 warn. Still, they add that the genes unearthed by the current association study "are strong candidates because they affect hair follicle and epidermal differentiation and inflammation" and argue that "understanding how genes lead to tunnel formation and an overactive inflammatory response may lead to therapeutic breakthroughs that target [hidradenitis suppurativa] pathogenesis."

 

 

 

The Scan

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