ArticleAmerican journal of human genetics2006
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 209 papers, 1 of them a synthesis that pooled it.
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Who cites it
209 citing papers in PubMed, 1 synthesis or guideline pooled it, 561 citations in OpenAlex.
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- Influence of DEFB4 copy number variants on gene expression in monocytes.BMC research notes · 2025Article
- Balancing Act of the Intestinal Antimicrobial Proteins on Gut Microbiota and Health.Journal of microbiology (Seoul, Korea) · 2024Review
- Salivary Th17 cytokine, human β-defensin 1-3, and salivary scavenger and agglutinin levels in Crohn's disease.Clinical oral investigations · 2024Article
- On the core segmentation algorithms of copy number variation detection tools.Briefings in bioinformatics · 2024Article
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- The epithelium takes the stage in asthma and inflammatory bowel diseases.Frontiers in cell and developmental biology · 2024Review
- Comparative genomic diversity analysis of copy number variations (CNV) in indicine and taurine cattle thriving in Europe and Indian subcontinent.Animal biotechnology · 2023Article
- Mechanisms and regulation of defensins in host defense.Signal transduction and targeted therapy · 2023Review
- Genomewide Association Study Identifies Copy Number Variants Associated With Warfarin Dose Response and Risk of Venous Thromboembolism in African Americans.Clinical pharmacology and therapeutics · 2023Article
- Analysis of amplification and association polymorphisms in the bovine beta-defensin 129 (BBD129) gene revealed its function in bull fertility.Scientific reports · 2022Article
- A Polynesian-specific copy number variant encompassing the MICA gene associates with gout.Human molecular genetics · 2022Article
- Inflammatory Bowel Disease: A Review of Pre-Clinical Murine Models of Human Disease.International journal of molecular sciences · 2022Review
- Salivary Concentrations of Chemerin, α-Defensin 1, and TNF-α as Potential Biomarkers in the Early Diagnosis of Colorectal Cancer.Metabolites · 2022Article
- Clonal cytopenia of undetermined significance and atypical Behçet's: the importance of zinc.BMJ case reports · 2022Article
- Emerging Roles of Vitamin D-Induced Antimicrobial Peptides in Antiviral Innate Immunity.Nutrients · 2022Review
149 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
Abstract
Defensins are endogenous antimicrobial peptides that protect the intestinal mucosa against bacterial invasion. It has been suggested that deficient defensin expression may underlie the chronic inflammation of Crohn disease (CD). The DNA copy number of the beta-defensin gene cluster on chromosome 8p23.1 is highly polymorphic within the healthy population, which suggests that the defective beta-defensin induction in colonic CD could be due to low beta-defensin-gene copy number. Here, we tested this hypothesis, using genomewide DNA copy number profiling by array-based comparative genomic hybridization and quantitative polymerase-chain-reaction analysis of the human beta-defensin 2 (HBD-2) gene. We showed that healthy individuals, as well as patients with ulcerative colitis, have a median of 4 (range 2-10) HBD-2 gene copies per genome. In a surgical cohort with ileal or colonic CD and in a second large cohort with inflammatory bowel diseases, those with ileal resections/disease exhibited a normal median HBD-2 copy number of 4, whereas those with colonic CD had a median of only 3 copies per genome (P=.008 for the surgical cohort; P=.032 for the second cohort). Overall, the copy number distribution in colonic CD was shifted to lower numbers compared with controls (P=.002 for both the surgical cohort and the cohort with inflammatory bowel diseases). Individuals with < or = 3 copies have a significantly higher risk of developing colonic CD than did individuals with > or = 4 copies (odds ratio 3.06; 95% confidence interval 1.46-6.45). An HBD-2 gene copy number of < 4 was associated with diminished mucosal HBD-2 mRNA expression (P=.033). In conclusion, a lower HBD-2 gene copy number in the beta-defensin locus predisposes to colonic CD, most likely through diminished beta-defensin expression.
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