ArticleInflammatory bowel diseases2018
Mendelian Disease Associations Reveal Novel Insights into Inflammatory Bowel Disease.
Article in Inflammatory bowel diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 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.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.
- Meta-Analysis of Expression Profiling Data Indicates Need for Combinatorial Biomarkers in Pediatric Ulcerative Colitis.Journal of immunology research · 2020Pooled it
- Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.Human genetics · 2025Article
- Inflammatory Bowel Disease and Primary Sclerosing Cholangitis in a Pediatric Patient With Neurofibromatosis Type 1.ACG case reports journal · 2021Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Background: Monogenic diseases have been shown to contribute to complex disease risk and may hold new insights into the underlying biological mechanism of Inflammatory Bowel Disease (IBD). Methods: We analyzed Mendelian disease associations with IBD using over 55 million patients from the Optum's deidentified electronic health records dataset database. Using the significant Mendelian diseases, we performed pathway enrichment analysis and constructed a model using gene expression datasets to differentiate Crohn's disease (CD), ulcerative colitis (UC), and healthy patient samples. Results: We found 50 Mendelian diseases were significantly associated with IBD, with 40 being significantly associated with both CD and UC. Our results for CD replicated those from previous studies. Pathways that were enriched consisted of mainly immune and metabolic processes with a focus on tolerance and oxidative stress. Our 3-way classifier for UC, CD, and healthy samples yielded an accuracy of 72%. Conclusions: Mendelian diseases that are significantly associated with IBD may reveal novel insights into the genetic architecture of IBD.
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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.