rs12419634 - POU2AF1
Magnitude 2.2 · 1 study on file
Reported associations
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An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs - Unknown journal (n.d.) · Unknown authors · PubMed 34033851
ABSTRACT: Backgrounds & Aims Primary biliary cholangitis (PBC) is a chronic liver disease in which autoimmune destruction of the small intrahepatic bile ducts eventually leads to cirrhosis. Many patients have inadequate response to licensed medications, motivating the search for novel therapies. Previous genome-wide association studies (GWAS) and meta-analyses (GWMA) of PBC have identified numerous risk loci for this condition, providing insight into its aetiology. We undertook the largest GWMA of PBC to date, aiming to identify additional risk loci and prioritise candidate genes for in silico drug efficacy screening. Methods We combined new and existing genotype data for 10,516 cases and 20,772 controls from 5 European and 2 East Asian cohorts. Results We identified 56 genome-wide signifi
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Screening
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baseline liver function screening for PBC risk Moderate
rs12419634-G associates with primary biliary cholangitis (PBC) susceptibility in GWAS; carriers have increased genetic risk for this autoimmune liver disease.
Discuss baseline liver tests and anti-mitochondrial antibody (AMA) screening with physician