ArticleAmerican journal of medical genetics. Part A2010
Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.
Article in American journal of medical genetics. Part A, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 76 citations in OpenAlex.
- Another ciliopathy? Uncovering the ciliary basis of biliary atresia.Hepatology international · 2026Review
- Extrahepatic Biliary Atresia With Situs Inversus and Ventricular Septal Defect: A Case Report.Clinical medicine insights. Case reports · 2026Article
- Amyloid precursor protein as a fibrosis marker in infants with biliary atresia.Pediatric research · 2025Article
- Genetic background and biliary atresia.World journal of pediatric surgery · 2025Review
- Forward genetics combined with unsupervised classifications identified zebrafish mutants affecting biliary system formation.Developmental biology · 2024Article
- Article
- Contribution ofInternational journal of molecular sciences · 2023Article
- Genetic Contributions to Biliary Atresia: A Developmental Cholangiopathy.Seminars in liver disease · 2023Review
- Transcriptome Analysis of Diffuse Large B-Cell Lymphoma Cells Inducibly Expressing MyD88 L265P Mutation Identifies Upregulated CD44, LGALS3, NFKBIZ, and BATF as Downstream Targets of Oncogenic NF-κB Signaling.International journal of molecular sciences · 2023Article
- Association analysis and functional follow-up identified common variants ofFrontiers in genetics · 2023Article
- Review
- Genetic Factors and Their Role in the Pathogenesis of Biliary Atresia.Frontiers in pediatrics · 2022Review
- The Role of GLI in the Regulation of Hepatic Epithelial-Mesenchymal Transition in Biliary Atresia.Frontiers in pediatrics · 2022Article
- Role of glypican-1 in regulating multiple cellular signaling pathways.American journal of physiology. Cell physiology · 2021Review
- Congenital biliary atresia is correlated with disrupted cell junctions and polarity caused by Cdc42 insufficiency in the liver.Theranostics · 2021Article
- The synthetic toxin biliatresone causes biliary atresia in mice.Laboratory investigation; a journal of technical methods and pathology · 2020Article
- Evaluation of Thyroid Function Tests in Children with Chronic Liver DiseasesJournal of clinical research in pediatric endocrinology · 2020Article
- Association of common variation inAging · 2020Article
- Biliary atresia: pathology, etiology and pathogenesis.Future science OA · 2020Review
- Exome Sequencing in Individuals with Isolated Biliary Atresia.Scientific reports · 2020Article
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 3 countries.
Funding
Abstract
Biliary atresia (BA) is a progressive, idiopathic obliteration of the extrahepatic biliary system occurring exclusively in the neonatal period. It is the most common disease leading to liver transplantation in children. The etiology of BA is unknown, although infectious, immune and genetic causes have been suggested. Although the recurrence of BA in families is not common, there are more than 30 multiplex families reported and an underlying genetic susceptibility has been hypothesized. We screened a cohort of 35 BA patients for genomic alterations that might confer susceptibility to BA. DNA was genotyped on the Illumina Human Hap 550 Beadchip platform, which analyzes over 550,000 single nucleotide polymorphisms (SNPs) for genomic deletions and duplications. Areas of increased and decreased copy number were compared to those found in control populations. To identify regions that could serve as susceptibility factors for BA, we searched for regions that were found in BA patients, but not in controls. We identified two unrelated BA patients with overlapping heterozygous deletions of 2q37.3. Patient 1 had a 1.76 Mb (280 SNP), heterozygous deletion containing 30 genes. Patient 2 had a 5.87 Mb (1,346 SNP) heterozygous deletion containing 55 genes. The overlapping 1.76 Mb deletion on chromosome 2q37.3 from 240,936,900 to 242,692,820 constitutes the critical region and the genes within this region could be candidates for susceptibility to BA.
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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.