A chronic inflammatory skin disease causing painful lumps, abscesses and tunnels in skin folds, often mistaken for severe acne or recurring boils -- a 2026 multiomics study found its genetics touch lipid handling, the skin barrier, and cellular waste disposal, not one single pathway.
Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease that causes painful lumps, abscesses and, over time, tunnels under the skin — most often in the armpits, groin and other skin folds where sweat glands and hair follicles concentrate. It is frequently mistaken, including by patients themselves, for severe acne or recurring boils, but it is a distinct disease with its own biology: inflammation starting around hair follicles that become blocked, not primarily an infection.
A 2026 study meta-analyzed genome-wide association data across three major cohorts, covering nearly 3,941 people with HS and 1.4 million without. It found 9 genome-wide significant loci, 5 of them new, mapping to 11 lead genes in total. Two previously unreported candidates, SMPD4 and PSMA4, stood out for being differentially expressed directly in affected skin — not just statistically associated, but active at the actual site of disease. Using Mendelian randomization, the study separately implicated MPO (myeloperoxidase, an enzyme neutrophils use to generate oxidative bursts against pathogens), and reaffirmed a role already suspected for KLF5, a transcription factor.
What ties these findings together is not one pathway but several: the genes involved touch lipid handling, skin-barrier integrity, proteasome activity (how cells break down and recycle proteins) and oxidative stress — a picture of a disease with multiple genuinely separate routes to the same clinical result, each a potential drug target in its own right rather than one dominant mechanism to fix.
This page holds 4 of this study's variants: one near MOK, one in HLA-DRA (part of the immune system's antigen-presentation machinery), one in PRKAR1B, and one near TUBA3E — a slice of the study's 11 lead genes, not the complete set the paper's own multiomics follow-up work named.
Positions joined since this page was written
What this is The text above discusses the variants this page was written around. Since then the catalogue has joined 4 more positions to it, by shared trait or shared paper. They are listed here by the paper each came from; the text does not describe them, and each variant page carries that study's own record.
Broadaway KA et al. 2025, The British journal of dermatology rs2681502 (near SUCNR1), rs12100281 (near KLF12), rs10146136 (ATL1), rs981625 (near KLF12) — PMID:40650879
Hidradenitis suppurativa is diagnosed by clinical examination — the characteristic lesions, their location and their recurring pattern — not by genotype. None of the 4 variants on this page are used by any guideline to diagnose HS or predict who will develop it.
The loci described above come from a population-level meta-analysis of nearly 1.4 million people. They point toward real, distinct biological pathways worth pursuing as drug targets — lipid handling, skin-barrier function, proteasome activity and oxidative stress among them — but they do not predict whether, or how severely, any one person will develop HS.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Hidradenitis Suppurativa comes down to these specific, well-studied positions — not a diagnosis.
Databases, guidelines and references
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Hidradenitis Suppurativa. MyGeneLog™. https://www.mygenelog.com/conditions/hidradenitis-suppurativa
Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease causing painful lumps, abscesses and tunnels under the skin, most often in skin folds like the armpits and groin. It starts with blocked, inflamed hair follicles, not primarily an infection, and is often mistaken for severe acne or recurring boils.
A meta-analysis of nearly 3,941 people with HS and 1.4 million without found 9 genome-wide significant loci (5 new), mapping to 11 lead genes. Two genes, SMPD4 and PSMA4, showed direct evidence of altered expression in affected skin, and the study connected HS genetics to lipid handling, skin-barrier function, proteasome activity and oxidative stress.
No. HS is diagnosed by clinical examination of the lesions and their pattern, not genotype. These are population-level findings from nearly 1.4 million people, not a way to predict an individual case.
No, though it is often mistaken for it. Both involve hair follicles, but HS is a distinct chronic inflammatory disease with its own genetic and clinical profile, causing deeper lumps, abscesses and tunnels rather than typical acne lesions.
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