ArticleFrontiers in immunology2014
Genome-wide analysis of DNA methylation, copy number variation, and gene expression in monozygotic twins discordant for primary biliary cirrhosis.
Article in Frontiers in immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 32 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- Biliary atresia in twins: a systematic review and meta-analysis.Pediatric surgery international · 2020Pooled it
- CircRNA profiles from one-tube multiplex probe-based qPCR can distinguish between monozygotic twins.International journal of legal medicine · 2026Article
- FCRL3 as a potential link between Benzo[a]pyrene exposure and primary biliary cholangitis: insights from comparative toxicogenomics and multi-omics analysis.BMC gastroenterology · 2026Article
- Cell-specific epigenome-wide DNA methylation in peripheral CD4(+) lymphocytes from patients with primary biliary cholangitis.Journal of translational autoimmunity · 2025Article
- Review
- Mechanism-based target therapy in primary biliary cholangitis: opportunities before liver cirrhosis?Frontiers in immunology · 2023Review
- The Role of Epigenetics in Primary Biliary Cholangitis.International journal of molecular sciences · 2022Review
- New insights on the role of human leukocyte antigen complex in primary biliary cholangitis.Frontiers in immunology · 2022Review
- Epigenetic Aspects and Prospects in Autoimmune Hepatitis.Frontiers in immunology · 2022Review
- Impact of genetic and environmental factors on autoimmune hepatitis.Journal of translational autoimmunity · 2021Review
- Genome-wide resolution peripheral blood methylome profiling reveals signatures for cholestatic liver disease.Epigenomics · 2020Article
- Biliary atresia in twins'population: a retrospective multicenter study in mainland China.Pediatric surgery international · 2020Article
- Promoter hypermethylation of theJHEP reports : innovation in hepatology · 2019Article
- Sex and autoimmune disease: Four mechanisms pointing at women.Mediterranean journal of rheumatology · 2019Review
- Epigenetic Modifications in Generalized Autoimmune Epithelitis: Sjögren's Syndrome and Primary Biliary Cholangitis.Epigenomes · 2019Review
- Clinical epigenetics: seizing opportunities for translation.Nature reviews. Genetics · 2019Review
- Pathogen infections and primary biliary cholangitis.Clinical and experimental immunology · 2019Review
- Unravelling the Roles of Susceptibility Loci for Autoimmune Diseases in the Post-GWAS Era.Genes · 2018Review
- Genetic and epigenetic influences on the loss of tolerance in autoimmunity.Cellular & molecular immunology · 2018Review
- Genetics and epigenetics in the pathogenesis of primary biliary cholangitis.Clinical journal of gastroenterology · 2018Review
Corrections and comments
- Erratum issuedSeldin, Michael F [added]
Authors and funding
24 authors at 8 institutions in 3 countries.
Funding
Abstract
Primary biliary cirrhosis (PBC) is an uncommon autoimmune disease with a homogeneous clinical phenotype that reflects incomplete disease concordance in monozygotic (MZ) twins. We have taken advantage of a unique collection consisting of genomic DNA and mRNA from peripheral blood cells of female MZ twins (n = 3 sets) and sisters of similar age (n = 8 pairs) discordant for disease. We performed a genome-wide study to investigate differences in (i) DNA methylation (using a custom tiled four-plex array containing tiled 50-mers 19,084 randomly chosen methylation sites), (ii) copy number variation (CNV) (with a chip including markers derived from the 1000 Genomes Project, all three HapMap phases, and recently published studies), and/or (iii) gene expression (by whole-genome expression arrays). Based on the results obtained from these three approaches we utilized quantitative PCR to compare the expression of candidate genes. Importantly, our data support consistent differences in discordant twins and siblings for the (i) methylation profiles of 60 gene regions, (ii) CNV of 10 genes, and (iii) the expression of 2 interferon-dependent genes. Quantitative PCR analysis showed that 17 of these genes are differentially expressed in discordant sibling pairs. In conclusion, we report that MZ twins and sisters discordant for PBC manifest particular epigenetic differences and highlight the value of the epigenetic study of twins.
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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.