A rare autoimmune blistering disease of skin and mucous membranes, whose strongest known genetic signal by far sits inside the immune system's own HLA region — the variant this page carries is a real but much smaller contributor from the same study.
Pemphigus vulgaris (PV) is a rare, potentially serious autoimmune disease in which the immune system produces antibodies against proteins that hold skin and mucous-membrane cells together, causing painful blisters and erosions. It is one of the more strongly HLA-linked autoimmune diseases known — HLA region genetics were already suspected to matter a great deal before the study behind this page fine-mapped exactly how much.
The study compared 240 PV patients against 1,031 controls in a Han Chinese discovery cohort, replicating in a further 252 patients and 1,852 controls. Its fine-mapping of the MHC (HLA) region — the strongest and most complex part of the human genome for immune-related disease risk — resolved three independent association signals: the HLA-DRB1*14:04 allele carried an odds ratio of 6.28, one of the largest effect sizes of any signal this catalogue references anywhere; a second signal near TAP2 carried an odds ratio of 3.25; and a third, in HLA-DRA, was protective (odds ratio 0.33) rather than risk-raising. None of these three carry a standard rsID-level GWAS Catalog record in the form this catalogue draws from, so they are described here in prose, sourced to the same paper, rather than as separately linked variant pages.
Outside the MHC, the same study found one further genome-wide-significant locus: rs11218708, near UBASH3B on chromosome 11q24.1 (odds ratio 1.54) — a real finding, but a much smaller effect than any of the three HLA signals above. UBASH3B is involved in regulating T-cell receptor signaling, a biologically plausible role in an antibody-driven autoimmune disease.
Pemphigus vulgaris is diagnosed by skin biopsy with direct immunofluorescence and blood tests for the causative autoantibodies (anti-desmoglein), not by genotype. It is treated with immunosuppressive therapy, typically corticosteroids plus a steroid-sparing agent such as rituximab, managed by a dermatologist — untreated, it can be serious, and treatment decisions are made on clinical grounds, not genetic ones.
The strongest signal here isn't the variant on this page. The HLA-DRB1*14:04 allele found by this same study carries a far larger effect (odds ratio 6.28) than rs11218708 (odds ratio 1.54) — this page names it for completeness and accuracy, even though it isn't catalogued here as its own linked variant page.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Pemphigus Vulgaris comes down to these specific, well-studied positions — not a diagnosis.
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Pemphigus Vulgaris. MyGeneLog™. https://www.mygenelog.com/conditions/pemphigus-vulgaris
No. The same study that found it also fine-mapped a much stronger signal inside the HLA region (HLA-DRB1*14:04, odds ratio 6.28) — the variant on this page (rs11218708, odds ratio 1.54) is real but a smaller contributor.
HLA alleles are typed differently from the SNP-level genotyping that populates this catalogue's Variant records, so they don't carry a standard rsID in the form this site draws from. It is described here in prose instead, sourced to the same paper.
By skin biopsy with direct immunofluorescence and a blood test for the causative autoantibodies — not by genetic testing.
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