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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

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.