rs1054037 - MANBA
Magnitude 2.8 · 1 study on file
Reported associations
-
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways - Unknown journal (n.d.) · Unknown authors · PubMed 26394269
ABSTRACT: Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined<5 × 10−8) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist. Primary biliary cirrhosis is an autoimmune liver disease with poor therapeutic options. Here Cordell et al. a perform meta-analysis of European genome-wide association studies identifying six
Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Bloodwork
-
Liver cholestasis markers Moderate
Alkaline phosphatase, GGT, and bilirubin screening detects PBC cholestasis; important given genetic risk
Order baseline ALP, GGT, bilirubin; establish monitoring schedule with physician
Discuss with your doctor
-
Primary biliary cholangitis genetic risk Moderate
rs1054037 T allele confers 1.22-fold increased PBC risk; early detection improves outcomes
Review family history of PBC and symptoms with physician; discuss screening approach