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Who was studied at least 2,871 European ancestry cases, at least 12,019 European ancestry controls (MTAG boosted by autoimmune-related disease samples); replicated in at least 952 cases, 231,644 controls (MTAG boosted by autoimmune-related disease samples).
The effect
Each copy of the C allele shifted the measure 0.511 higher (95% confidence interval 0.48-0.54); p = 8 × 10−247.
Where it sits Chromosome 6, band 6p21.33 — in an intron of HLA-B.
What each result means
C/CTwo copies of the version the research linked to Primary sclerosing cholangitis (MTAG). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/TOne copy of the version the research linked to Primary sclerosing cholangitis (MTAG). That is a smaller link than two copies.
T/TNo copy of the version the research linked to Primary sclerosing cholangitis (MTAG). This is the starting point the study compared everyone against.
Nature communications · 2023 · PMID 36828809 · open access
Questions about rs2523593
What is rs2523593?
rs2523593 is a single position in the genome, in or near the HLA-B gene. Published research associates it with primary sclerosing cholangitis (mtag). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs2523593 linked to?
On MyGeneLog this position is linked to Primary Sclerosing Cholangitis. The research behind each link, and its sources, are set out on that condition page.
Does rs2523593 affect how medicines work?
HLA-B carries pharmacogenomic findings for Abacavir, Allopurinol, Carbamazepine and oxcarbazepine. That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.
Does having rs2523593 mean I will get this?
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
Where does the information about rs2523593 come from?
GWAS Catalog, Nature communications 2023, PMID:36828809. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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