ArticleJournal of hepatology2012
Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci.
Article in Journal of hepatology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers, 3 of them syntheses that pooled it.
What it found
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Who cites it
95 citing papers in PubMed, 3 syntheses or guidelines pooled it, 233 citations in OpenAlex.
- Independent association of general and central adiposity with risk of gallstone disease: observational and genetic analyses.Frontiers in endocrinology · 2024Pooled it
- Clinical guidelines for primary sclerosing cholangitis 2017.Journal of gastroenterology · 2018Guideline
- Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.Nature genetics · 2013Pooled it
- Low dose Naltrexone for induction of remission in inflammatory bowel disease patients.Journal of translational medicine · 2018Trial
- Genetic architecture of primary sclerosing cholangitis: shared pathways with inflammatory bowel disease and gut-liver axis mediation.International journal of surgery (London, England) · 2026Article
- Genomics of host-microbiome interactions in humans.Nature reviews. Genetics · 2026Review
- Fucosylation in digestive inflammatory diseases and cancers: From mechanical studies to clinical translation.Genes & diseases · 2025Review
- Article
- Unraveling the Converging Roles of ASC-Dependent Inflammasomes, Interleukin-1 Superfamily Members, Serum Amyloid A, and Non-Sterile Inflammation in Disease Pathology and Fibrosis in Inflammatory Bowel Disease and Primary Sclerosing Cholangitis.International journal of molecular sciences · 2025Review
- Unmet needs in autoimmune liver diseases.Current opinion in immunology · 2025Review
- Association between theMicrobiology spectrum · 2025Article
- Bile Acids-Based Therapies for Primary Sclerosing Cholangitis: Current Landscape and Future Developments.Cells · 2024Review
- Intergenic risk variant rs56258221 skews the fate of naive CD4Cell reports. Medicine · 2024Article
- Network proximity analysis as a theoretical model for identifying potential novel therapies in primary sclerosing cholangitis.BMC medical genomics · 2024Article
- Causality of immune cells on primary sclerosing cholangitis: a bidirectional two-sample Mendelian randomization study.Frontiers in immunology · 2024Article
- Treatment of cholangiocarcinoma in patients with primary sclerosing cholangitis: a comprehensive review.eGastroenterology · 2024Review
- The microbiota and the gut-liver axis in primary sclerosing cholangitis.Nature reviews. Gastroenterology & hepatology · 2023Review
- Fucosylated TLR4 mediates communication between mutualist fucotrophic microbiota and mammalian gut mucosa.Frontiers in medicine · 2023Article
- Impact of gut microbiota on nonalcoholic fatty liver disease: insights from a leave-one-out cross-validation study.Frontiers in microbiology · 2023Article
- Validation of a genotype-based algorithm that identifies individuals with low, intermediate, and high serum CA19-9 levels in cancer-free individuals and in patients with colorectal cancer.Journal of gastrointestinal oncology · 2022Article
35 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
40 authors at 17 institutions in 6 countries.
Funding
Abstract
BACKGROUND &
aimsA limited number of genetic risk factors have been reported in primary sclerosing cholangitis (PSC). To discover further genetic susceptibility factors for PSC, we followed up on a second tier of single nucleotide polymorphisms (SNPs) from a genome-wide association study (GWAS).
methodsWe analyzed 45 SNPs in 1221 PSC cases and 3508 controls. The association results from the replication analysis and the original GWAS (715 PSC cases and 2962 controls) were combined in a meta-analysis comprising 1936 PSC cases and 6470 controls. We performed an analysis of bile microbial community composition in 39 PSC patients by 16S rRNA sequencing.
resultsSeventeen SNPs representing 12 distinct genetic loci achieved nominal significance (p(replication) <0.05) in the replication. The most robust novel association was detected at chromosome 1p36 (rs3748816; p(combined)=2.1 × 10(-8)) where the MMEL1 and TNFRSF14 genes represent potential disease genes. Eight additional novel loci showed suggestive evidence of association (p(repl) <0.05). FUT2 at chromosome 19q13 (rs602662; p(comb)=1.9 × 10(-6), rs281377; p(comb)=2.1 × 10(-6) and rs601338; p(comb)=2.7 × 10(-6)) is notable due to its implication in altered susceptibility to infectious agents. We found that FUT2 secretor status and genotype defined by rs601338 significantly influence biliary microbial community composition in PSC patients.
conclusionsWe identify multiple new PSC risk loci by extended analysis of a PSC GWAS. FUT2 genotype needs to be taken into account when assessing the influence of microbiota on biliary pathology in PSC.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.