ArticleGenes and immunity
Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3.
Article in Genes and immunity. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 35 citations in OpenAlex.
- Pharmacogenomic Pathways Underlying Variable Vedolizumab Response in Crohn's Disease Patients: A Rare-Variant Analysis.Biomedicines · 2026Article
- HEATR3 recognizes membrane rupture and facilitates xenophagy in response toProceedings of the National Academy of Sciences of the United States of America · 2025Article
- HEATR3 involved in the cell proliferation, metastasis and cell cycle development of bladder cancer acts as a tumor suppressor.Molecular genetics and genomics : MGG · 2023Article
- Nuclear stabilization of p53 requires a functional nucleolar surveillance pathway.Cell reports · 2022Article
- Biological insights into systemic lupus erythematosus through an immune cell-specific transcriptome-wide association study.Annals of the rheumatic diseases · 2022Article
- Article
- Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing.Frontiers in genetics · 2022Article
- Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease.Gastroenterology report · 2021Article
- Cross-talk of four types of RNA modification writers defines tumor microenvironment and pharmacogenomic landscape in colorectal cancer.Molecular cancer · 2021Article
- Functional and druggability analysis of the SARS-CoV-2 proteome.European journal of pharmacology · 2021Article
- A network medicine approach to investigation and population-based validation of disease manifestations and drug repurposing for COVID-19.PLoS biology · 2020Observational
- A Network Medicine Approach to Investigation and Population-based Validation of Disease Manifestations and Drug Repurposing for COVID-19.ChemRxiv : the preprint server for chemistry · 2020Article
- Diffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci.Acta neuropathologica · 2018Article
- Functional variants in theScience translational medicine · 2018Article
- Intergenic disease-associated regions are abundant in novel transcripts.Genome biology · 2017Article
- High frequency of CYP2D6 ultrarapid metabolizer genotypes in an Ashkenazi Jewish population from Argentina.The pharmacogenomics journal · 2017Article
- Opportunities and challenges of whole-genome and -exome sequencing.BMC genetics · 2017Review
- Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families.Gastroenterology · 2016Article
- Genetics and Pathogenesis of Inflammatory Bowel Disease.Annual review of pathology · 2016Review
- Whole-exome Sequence Analysis Implicates Rare Il17REL Variants in Familial and Sporadic Inflammatory Bowel Disease.Inflammatory bowel diseases · 2016Article
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Authors and funding
26 authors at 11 institutions in 3 countries.
Funding
Abstract
The Ashkenazi Jewish population has a several-fold higher prevalence of Crohn's disease (CD) compared with non-Jewish European ancestry populations and has a unique genetic history. Haplotype association is critical to CD etiology in this population, most notably at NOD2, in which three causal, uncommon and conditionally independent NOD2 variants reside on a shared background haplotype. We present an analysis of extended haplotypes that showed significantly greater association to CD in the Ashkenazi Jewish population compared with a non-Jewish population (145 haplotypes and no haplotypes with P-value <10(-3), respectively). Two haplotype regions, one each on chromosomes 16 and 21, conferred increased disease risk within established CD loci. We performed exome sequencing of 55 Ashkenazi Jewish individuals and follow-up genotyping focused on variants in these two regions. We observed Ashkenazi Jewish-specific nominal association at R755C in TRPM2 on chromosome 21. Within the chromosome 16 region, R642S of HEATR3 and rs9922362 of BRD7 showed genome-wide significance. Expression studies of HEATR3 demonstrated a positive role in NOD2-mediated NF-κB signaling. The BRD7 signal showed conditional dependence with only the downstream rare CD-causal variants in NOD2, but not with the background haplotype; this elaborates NOD2 as a key illustration of synthetic association.
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