Behcet's Disease, as genome-wide studies have reported it: 4 positions from 3 studies, the largest recording 3,197 cases and 5,785 controls (European ancestry, East Asian ancestry). Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
Genome-wide studies have so far placed 4 positions on Behcet's Disease, from 3 studies; the GWAS Catalog files the condition as "Behcet's disease". MyGeneLog's code assembles this page from those records and rebuilds it when a new position is reported — nothing here was written by hand, and nothing here goes beyond what the records say.
Ortiz Fernández L et al. 2021, in Arthritis & Rheumatology — Genetic Association of a Gain-of-Function IFNGR1 Polymorphism and the Intergenic Region LNCAROD/DKK1 With Behçet's Disease. Sample in the catalogue's record: 3,197 cases and 5,785 controls (European ancestry, East Asian ancestry). From it, 2 positions on this page: rs2087726 (CCR3), rs4896243 (IFNGR1). PMID:33393726.
Ortiz-Fernández L et al. 2016, in PloS One — Genetic Analysis with the Immunochip Platform in Behçet Disease. Identification of Residues Associated in the HLA Class I Region and New Susceptibility Loci. Studied in 278 cases and 1,517 controls. The one position on this page from it: rs1874886 (IL12A). PMID:27548383.
Kirino Y et al. 2013, in Nature Genetics — Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1. The catalogue records its sample as 1,215 cases and 1,278 controls. From it, one position on this page: rs7574070 (STAT4). PMID:23291587.
The 4 positions lie in or near 4 genes: CCR3, IFNGR1, IL12A, STAT4. A gene named here is the catalogue's mapped location for a position, not a mechanism; the studies are cited above so that a reader can go to them.
The strongest association in the records is rs2087726 in CCR3, reported by Ortiz Fernández L et al. 2021 at P = 9 × 10-10, with an odds ratio of 0.79.
Association records say which positions differ, on average, between people with Behcet's Disease and people without. They do not describe the condition, say how common it is, or tell anyone what to do, so this page does not either. For a single position, open its variant page: it gives that study's record in fixed sentences, with ClinVar's where there is one.
Nothing on this page diagnoses Behcet's Disease. The 4 variants here are research findings; no guideline uses them to predict, screen for or diagnose the condition — that is a clinician's work.
This page was assembled by code from association records. It holds no clinical guidance, because its sources hold none: a genome-wide study reports which positions differ between people with a condition and people without, at the population level, and that is all this page repeats. A question about a symptom, a test or a treatment belongs with a clinician.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Behcet's Disease comes down to these specific, well-studied positions — not a diagnosis.
Databases, guidelines and references
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Behcet's Disease. MyGeneLog™. https://www.mygenelog.com/conditions/behcets-disease
In the GWAS Catalog, Behcet's Disease is filed as "Behcet's disease". Rather than define it, this page lists the genome-wide findings: 4 positions from 3 studies, each with its study's sample and citation.
Genome-wide studies have reported 4 associated positions; the largest study behind this page recorded 3,197 cases and 5,785 controls (European ancestry, East Asian ancestry). Each common variant has a small effect, and an association in a population is not a cause in any one person.
The positions lie in or near 4 genes: CCR3, IFNGR1, IL12A, STAT4. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Behcet's Disease is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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.