ArticleGenes and immunity2010
A 3' UTR transition within DEFB1 is associated with chronic and aggressive periodontitis.
Article in Genes and immunity, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 67 citations in OpenAlex.
- Genetic Biomarkers for Periodontal Diseases: A Systematic Review.Journal of clinical periodontology · 2025Pooled it
- Pooled it
- Role of innate host defense proteins in oral cancerogenesis.Periodontology 2000 · 2024Review
- MicroRNAs in Gingival Crevicular Fluid: An Observational Case-Control Study of Differential Expression in Periodontitis.Non-coding RNA · 2023Article
- Mechanisms and regulation of defensins in host defense.Signal transduction and targeted therapy · 2023Review
- The Potential Role of Epigenetic Modifications on Different Facets in the Periodontal Pathogenesis.Genes · 2023Review
- SNPs in miRNAs and Target Sequences: Role in Cancer and Diabetes.Frontiers in genetics · 2021Review
- Hypoxia and Innate Immunity: Keeping Up with the HIFsters.Annual review of immunology · 2020Review
- Study on gene expression patterns and functional pathways of peripheral blood monocytes reveals potential molecular mechanism of surgical treatment for periodontitis.World journal of clinical cases · 2019Article
- 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
- Ubiquitously expressed Human Beta Defensin 1 (hBD1) forms bacteria-entrapping nets in a redox dependent mode of action.PLoS pathogens · 2017Article
- A Putative Association of a Single Nucleotide Polymorphism in GPR126 with Aggressive Periodontitis in a Japanese Population.PloS one · 2016Article
- Article
- Neutrophils and inflammatory metabolism in antimicrobial functions of the mucosa.Journal of leukocyte biology · 2015Review
- Pocket depth and bleeding on probing and their associations with dental, lifestyle, socioeconomic and blood variables: a cross-sectional, multicenter feasibility study of the German National Cohort.BMC oral health · 2015Article
- Targeting hypoxia signalling for the treatment of ischaemic and inflammatory diseases.Nature reviews. Drug discovery · 2014Review
- Fundamental role for HIF-1α in constitutive expression of human β defensin-1.Mucosal immunology · 2013Article
- Variation in human β-defensin genes: new insights from a multi-population study.International journal of immunogenetics · 2013Article
- Human α-defensin (DEFA) gene expression helps to characterise benign and malignant salivary gland tumours.BMC cancer · 2012Article
- Clinical application of human β-defensin and CD14 gene polymorphism in evaluating the status of chronic inflammation.Journal of translational medicine · 2012Article
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Periodontal diseases are complex inflammatory diseases and affect up to 20% of the worldwide population. An unbalanced reaction of the immune system toward microbial pathogens is considered as the key factor in the development of periodontitis. Defensins have a strong antimicrobial function and are important contributors of the immune system toward maintaining health. Here, we present the first systematic association study of DEFB1. Using a haplotype-tagging single nucleotide polymorphism (SNP) approach, including described promoter SNPs of DEFB1, we investigated the associations of the selected variants in a large population (N=1337 cases and 2887 ethnically matched controls). The 3' untranslated region SNP, rs1047031, showed the most significant association signal for homozygous carriers of the rare A allele (P=0.002) with an increased genetic risk of 1.3 (95% confidence interval: 1.11-1.57). The association was consistent with the specific periodontitis forms: chronic periodontitis (odds ratio=2.2 (95% confidence interval: 1.16-4.35), P=0.02), and aggressive periodontitis (odds ratio=1.3 (95% confidence interval 1.04-1.68), P=0.02). Sequencing of regulatory and exonic regions of DEFB1 identified no other associated variant, pointing toward rs1047031 as likely being the causative variant. Prediction of microRNA targets identified a potential microRNA-binding site at the position of rs1047031.
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Registered trials
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