ArticlePLoS genetics2018
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.
Article in PLoS genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.
- The correlation between rs2501577 gene polymorphism and biliary atresia: a systematic review and meta-analysis.Pediatric surgery international · 2023Pooled it
- Another ciliopathy? Uncovering the ciliary basis of biliary atresia.Hepatology international · 2026Review
- Inflammatory factor CCL2 enhances the interaction between monocyte-macrophage cells and liver parenchymal cells to promote liver inflammation and fibrosis in biliary atresia.BMC pediatrics · 2025Article
- Amyloid precursor protein as a fibrosis marker in infants with biliary atresia.Pediatric research · 2025Article
- Pathological Changes in Extracellular Matrix Composition Orchestrate the Fibrotic Feedback Loop Through Macrophage Activation in Dupuytren's Contracture.International journal of molecular sciences · 2025Article
- Organoids in biliary atresia.World journal of pediatric surgery · 2025Review
- Genetic background and biliary atresia.World journal of pediatric surgery · 2025Review
- Biliary atresia susceptibility gene EFEMP1 regulates extrahepatic bile duct elastic fiber formation and mechanics.JHEP reports : innovation in hepatology · 2025Article
- Heritable Chronic Cholestatic Liver Diseases: A Review.Journal of clinical and translational hepatology · 2024Review
- Biliary atresia.Nature reviews. Disease primers · 2024Review
- Article
- Exploring causality with biliary atresia at different levels: two-sample Mendelian randomization study.World journal of pediatric surgery · 2024Article
- Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes.Journal of hepatology · 2023Article
- The association of immune-related genes and the potential role of IL10 with biliary atresia.Pediatric research · 2023Article
- Contribution ofInternational journal of molecular sciences · 2023Article
- Genetic Contributions to Biliary Atresia: A Developmental Cholangiopathy.Seminars in liver disease · 2023Review
- Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.American journal of medical genetics. Part A · 2023Article
- Congenital biliary atresia caused byWorld journal of clinical cases · 2023Article
- Identification and validation of aging-related gene signatures and their immune landscape in diabetic nephropathy.Frontiers in medicine · 2023Article
- Association analysis and functional follow-up identified common variants ofFrontiers in genetics · 2023Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 3 countries.
Funding
Abstract
Biliary atresia (BA) is a rare pediatric cholangiopathy characterized by fibrosclerosing obliteration of the extrahepatic bile ducts, leading to cholestasis, fibrosis, cirrhosis, and eventual liver failure. The etiology of BA remains unknown, although environmental, inflammatory, infectious, and genetic risk factors have been proposed. We performed a genome-wide association study (GWAS) in a European-American cohort of 343 isolated BA patients and 1716 controls to identify genetic loci associated with BA. A second GWAS was performed in an independent European-American cohort of 156 patients with BA and other extrahepatic anomalies and 212 controls to confirm the identified candidate BA-associated SNPs. Meta-analysis revealed three genome-wide significant BA-associated SNPs on 2p16.1 (rs10865291, rs6761893, and rs727878; P < 5 ×10-8), located within the fifth intron of the EFEMP1 gene, which encodes a secreted extracellular protein implicated in extracellular matrix remodeling, cell proliferation, and organogenesis. RNA expression analysis showed an increase in EFEMP1 transcripts from human liver specimens isolated from patients with either BA or other cholestatic diseases when compared to normal control liver samples. Immunohistochemistry demonstrated that EFEMP1 is expressed in cholangiocytes and vascular smooth muscle cells in liver specimens from patients with BA and other cholestatic diseases, but it is absent from cholangiocytes in normal control liver samples. Efemp1 transcripts had higher expression in cholangiocytes and portal fibroblasts as compared with other cell types in normal rat liver. The identification of a novel BA-associated locus, and implication of EFEMP1 as a new BA candidate susceptibility gene, could provide new insights to understanding the mechanisms underlying this severe pediatric disorder.
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