Three studies across two ancestries converge on the same story: severe acne's genetics run through TGF-beta signaling and the structural biology of the hair follicle, not through inflammation alone.
Severe acne is a chronic inflammatory disorder of the skin's pilosebaceous (hair follicle and oil gland) unit, marked by widespread nodules, cysts and potential scarring. This page holds 4 variants from three genome-wide studies across two ancestries.
A 2014 study of 1,056 severe acne cases and 1,056 controls in a Chinese Han population, replicated in 1,860 further cases and 3,660 controls, found two new loci involved in androgen metabolism, inflammation and scar formation — three processes already central to acne's clinical picture. This page's rs7531806 (SELL) comes from this study.
A separate 2014 study of 1,893 UK severe acne cases and 5,132 controls found three loci — all three containing genes in the TGF-β cell signaling pathway specifically: OVOL1, FST and TGFB2. Two of these genes, OVOL1 and TGFB2, showed measurably decreased expression in affected skin compared to normal skin from the same patients — direct tissue-level evidence, not just a statistical association. This page's rs38055 and rs1159268 come from this study.
A 2018 study combined 3,823 new cases and 16,144 controls with the earlier UK study for a total of 26,722 people, finding 20 independent signals at 15 loci, 12 newly reported. Likely causal variants disrupted the coding region of WNT10A and a binding site for the P63 transcription factor. One locus raised expression of LAMC2 — a gene whose severe loss-of-function mutations cause a completely different, blistering skin disease (epidermolysis bullosa) — tying acne risk to genes that maintain the physical structure of the hair follicle and skin, not inflammation alone. This page's rs4487353 (FGF2) comes from this study.
Severe acne is diagnosed by clinical examination of the skin — not by genotype. None of the 4 variants on this page are used by any guideline to diagnose acne or select treatment.
The loci described above come from three separate genetic studies together covering tens of thousands of people across two ancestries, with real tissue-expression evidence for the TGF-β pathway specifically. They point at which biological processes (androgen metabolism, TGF-β signaling, hair-follicle structural maintenance) shape susceptibility at a population level — they are not a diagnostic test.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Severe Acne comes down to these specific, well-studied positions — not a diagnosis.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 4 of 4 linked studies with a resolved discovery ancestry.
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Severe Acne. MyGeneLog™. https://www.mygenelog.com/conditions/severe-acne
A chronic inflammatory disorder of the skin's hair follicle and oil gland unit, marked by widespread nodules, cysts and potential scarring.
A UK study found three risk loci all sitting in the TGF-beta cell signaling pathway, with two of the genes (OVOL1, TGFB2) showing directly measured reduced expression in patients' own affected skin compared to their normal skin.
Partly unclear. A Chinese Han study found loci tied to androgen metabolism and scarring, while separate UK/European studies found loci tied to TGF-beta signaling and hair-follicle structure -- run as three independent studies rather than one combined multi-ancestry analysis.
No. Severe acne is diagnosed by clinical skin examination. These are population-level genetic findings, not a way to predict an individual case.
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