ArticleScientific reports2017
Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 16 citations in OpenAlex.
- Identification of ferroptosis-genes associated with pediatric inflammatory bowel disease bioinformatics and machine learning approaches.Frontiers in immunology · 2025Article
- NOD2 in Crohn's Disease-Unfinished Business.Journal of Crohn's & colitis · 2023Article
- The regulatory role of alternative splicing in inflammatory bowel disease.Frontiers in immunology · 2023Review
- Article
- Deleterious Genetic Variation Across the NOD Signaling Pathway Is Associated With Reduced NFKB Signaling Transcription and Upregulation of Alternative Inflammatory Transcripts in Pediatric Inflammatory Bowel Disease.Inflammatory bowel diseases · 2022Article
- Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses.Scientific reports · 2022Article
- Mutations in Hsp90 Cochaperones Result in a Wide Variety of Human Disorders.Frontiers in molecular biosciences · 2021Review
- A genome-wide case-only test for the detection of digenic inheritance in human exomes.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Article
- An integrative network-based approach to identify novel disease genes and pathways: a case study in the context of inflammatory bowel disease.BMC bioinformatics · 2018Article
- Mutations in fetal genes involved in innate immunity and host defense against microbes increase risk of preterm premature rupture of membranes (PPROM).Molecular genetics & genomic medicine · 2017Article
Corrections and comments
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Authors and funding
11 authors at 7 institutions in 3 countries.
Funding
Abstract
Pediatric inflammatory bowel disease (pIBD) is a chronic heterogeneous disorder. This study looks at the burden of common and rare coding mutations within 41 genes comprising the NOD signaling pathway in pIBD patients. 136 pIBD and 106 control samples underwent whole-exome sequencing. We compared the burden of common, rare and private mutation between these two groups using the SKAT-O test. An independent replication cohort of 33 cases and 111 controls was used to validate significant findings. We observed variation in 40 of 41 genes comprising the NOD signaling pathway. Four genes were significantly associated with disease in the discovery cohort (BIRC2 p = 0.004, NFKB1 p = 0.005, NOD2 p = 0.029 and SUGT1 p = 0.047). Statistical significance was replicated for BIRC2 (p = 0.041) and NOD2 (p = 0.045) in an independent validation cohort. A gene based test on the combined discovery and replication cohort confirmed association for BIRC2 (p = 0.030). We successfully applied burden of mutation testing that jointly assesses common and rare variants, identifying two previously implicated genes (NFKB1 and NOD2) and confirmed a possible role in disease risk in a previously unreported gene (BIRC2). The identification of this novel gene provides a wider role for the inhibitor of apoptosis gene family in IBD pathogenesis.
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