ArticleGastroenterology2016
Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families.
Article in Gastroenterology, 2016. 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, 58 citations in OpenAlex.
- Multi-ancestry genome-wide and transcriptome-wide association analyses identified new risk loci and genes for inflammatory bowel disease.medRxiv : the preprint server for health sciences · 2025Article
- NADPH oxidases: redox regulation of cell homeostasis and disease.Physiological reviews · 2025Review
- The SERPINB4 gene mutation identified in twin patients with Crohn's disease impaires the intestinal epithelial cell functions.Scientific reports · 2025Article
- Gut microbiota and blood biomarkers in IBD-Related arthritis: insights from mendelian randomization.Scientific reports · 2025Article
- Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn's disease.Molecular biology reports · 2024Article
- Blood-Based Immune Protein Markers of Disease Progression in Murine Models of Acute and Chronic Inflammatory Bowel Disease.Biomedicines · 2023Article
- Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations inFrontiers in genetics · 2023Article
- High-throughput screening of caterpillars as a platform to study host-microbe interactions and enteric immunity.Nature communications · 2022Article
- Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease.Gastroenterology report · 2021Article
- DUOX2 variants associate with preclinical disturbances in microbiota-immune homeostasis and increased inflammatory bowel disease risk.The Journal of clinical investigation · 2021Article
- A truncated protein product of the germline variant of theCancer biology & medicine · 2021Article
- Epithelial TLR4 Signaling Activates DUOX2 to Induce Microbiota-Driven Tumorigenesis.Gastroenterology · 2021Article
- Beyond Immunity: Underappreciated Functions of Intestinal Macrophages.Frontiers in immunology · 2021Review
- Molecular Changes in the Non-Inflamed Terminal Ileum of Patients with Ulcerative Colitis.Cells · 2020Article
- NOD2 modulates immune tolerance via the GM-CSF-dependent generation of CD103Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Epithelial Toll-like receptors and their role in gut homeostasis and disease.Nature reviews. Gastroenterology & hepatology · 2020Review
- Contribution of Common Genetic Variants to Familial Aggregation of Disease and Implications for Sequencing Studies.PLoS genetics · 2019Article
- Prioritizing Crohn's disease genes by integrating association signals with gene expression implicates monocyte subsets.Genes and immunity · 2019Article
- Neutrophil GM-CSF signaling in inflammatory bowel disease patients is influenced by non-coding genetic variants.Scientific reports · 2019Article
- Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease.Inflammatory bowel diseases · 2019Article
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
BACKGROUND &
aimsCrohn's disease (CD) is a highly heritable disease that is particularly common in the Ashkenazi Jewish population. We studied 2 large Ashkenazi Jewish families with a high prevalence of CD in an attempt to identify novel genetic risk variants.
methodsAshkenazi Jewish patients with CD and a positive family history were recruited from the University College London Hospital. We used genome-wide, single-nucleotide polymorphism data to assess the burden of common CD-associated risk variants and for linkage analysis. Exome sequencing was performed and rare variants that were predicted to be deleterious and were observed at a high frequency in cases were prioritized. We undertook within-family association analysis after imputation and assessed candidate variants for evidence of association with CD in an independent cohort of Ashkenazi Jewish individuals. We examined the effects of a variant in DUOX2 on hydrogen peroxide production in HEK293 cells.
resultsWe identified 2 families (1 with >800 members and 1 with >200 members) containing 54 and 26 cases of CD or colitis, respectively. Both families had a significant enrichment of previously described common CD-associated risk variants. No genome-wide significant linkage was observed. Exome sequencing identified candidate variants, including a missense mutation in DUOX2 that impaired its function and a frameshift mutation in CSF2RB that was associated with CD in an independent cohort of Ashkenazi Jewish individuals.
conclusionsIn a study of 2 large Ashkenazi Jewish with multiple cases of CD, we found the genetic basis of the disease to be complex, with a role for common and rare genetic variants. We identified a frameshift mutation in CSF2RB that was replicated in an independent cohort. These findings show the value of family studies and the importance of the innate immune system in the pathogenesis of CD.
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