A 73,265-person GWAS of rosacea symptom severity found 7 loci, split between immune-inflammatory genes and pigmentation genes — a mix that maps onto the two theories long debated about the disease.
Rosacea is a common, chronic skin condition causing facial redness, visible blood vessels, and sometimes acne-like bumps, with variable severity and limited treatment options. Its exact cause has long been debated between two broad theories: an immune-inflammatory process, and a disorder connected to skin pigmentation and blood vessel biology.
Aponte et al. 2018 ran a GWAS of rosacea symptom severity in 73,265 23andMe research participants of European ancestry, finding 7 genome-wide-significant loci: IRF4, an HLA region flanked by PSMB9 and HLA-DMB, HERC2-OCA2, SLC45A2, IL13, a region flanked by NRXN3 and DIO2, and a region flanked by OVOL1 and SNX32. All were novel for rosacea except the HLA locus. Two loci (HERC2-OCA2, SLC45A2) were already known pigmentation genes; two more (IL13, the HLA region) were known immune-inflammation genes; IRF4 spans both categories — evidence that both long-debated theories of rosacea are pointing at real, if different, parts of the same disease.
This page's rs149851565, near NRXN3, is the paper's own NRXN3-DIO2 finding. The rest of this page's variants — near or in ZBTB12, C6orf15, HLA-C, NCR3, LSM2, and HLA-DPB1 — sit within the same broad HLA/MHC region on chromosome 6 as the paper's own PSMB9-HLA-DMB finding, consistent with the immune side of the condition's genetics.
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 2 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.
Verma A et al. 2024, Science (New York, N.Y.) rs10806180 (near ELOVL4), rs548090778 (near HLA-DRB1) — PMID:39024449
Rosacea is diagnosed by clinical examination of the skin, not by genotype. The variants here describe population-level genetic contributions to symptom severity — they play no role in diagnosis or treatment selection.
Treatment for rosacea — including topical and oral medications, and trigger avoidance — is guided by symptom pattern and severity observed in the clinic, not by any variant on this page.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Rosacea 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 7 of 9 linked studies with a resolved discovery ancestry.
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Rosacea. MyGeneLog™. https://www.mygenelog.com/conditions/rosacea
Rosacea is a common, chronic skin condition causing facial redness, visible blood vessels, and sometimes acne-like bumps, with variable severity and limited treatment options.
In 73,265 people, it found 7 genome-wide-significant loci for rosacea symptom severity, split between known immune-inflammation genes and known pigmentation genes — evidence that both long-debated theories of the disease are partly correct.
No. Rosacea is diagnosed by clinical examination of the skin, not genotype. This page describes population-level genetic associations with symptom severity.
The 2018 study found genetic evidence for both: some loci are known immune-inflammation genes, others are known pigmentation genes, and one gene, IRF4, is linked to both.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.