Dataset Information

Common Polymorphisms in IFI16 and AIM2 Genes Are Associated With Periodontal Disease.

ABSTRACT: BACKGROUND:The single nucleotide polymorphism (SNP) context of a previously identified periodontitis-associated locus is investigated, and its association with microbial, biologic, and periodontal disease clinical parameters is examined. METHODS:A 200-kb spanning region of 1q12 previously highlighted in a genome-wide association scan among 4,766 European American individuals (SNP rs1633266) was annotated. Two haplotype blocks were selected. Association of these polymorphisms with data on microbial plaque composition, gingival crevicular fluid (GCF)-interleukin (IL)-1? levels, and clinical parameters of periodontal disease were examined. Descriptive analysis of IFI16 and AIM2 protein expression in gingival tissues from healthy individuals (n = 2) and individuals with chronic periodontitis (n = 2) was done via immunohistochemistry. RESULTS:The highlighted locus is a 100-kb region containing the interferon ?-inducible protein 16 (IFI16) and absent in melanoma 2 (AIM2) genes. Two haplotype blocks, rs6940 and rs1057028, were significantly associated with increased extent bleeding on probing and levels of microorganisms Porphyromonas gingivalis, Tannerella forsythia, and Campylobacter rectus (P ?0.05). Haplotype block rs1057028 was also significantly associated with pathogens Fusobacterium nucleatum and Aggregatibacter actinomycetemcomitans, increased GCF-IL-1? levels, and extent of probing depth ?4 mm (P ?0.05). Prevalence of severe periodontitis (biofilm-gingival interface P3 classification) was positively associated with haplotype block rs1057028. Similar trends were observed for haplotype block rs1057028. IFI16 and AIM2 protein expression was observed in multiple cell types of gingival tissues, including inflammatory cells. CONCLUSION:This study found IFI16 and AIM2 SNPs associated with higher levels of periodontal microorganisms and an increased percentage of periodontal disease clinical parameters, suggesting the need for functional studies and additional fine-mapping of variants in the 1q12-locus.

SUBMITTER: Marchesan JT

PROVIDER: S-EPMC5695043 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature

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Common Polymorphisms in IFI16 and AIM2 Genes Are Associated With Periodontal Disease.

Marchesan Julie T JT Jiao Yizu Y Moss Kevin K Divaris Kimon K Seaman William W Webster-Cyriaque Jennifer J Zhang Shaoping S Yu Ning N Song Catharine C Bencharit Sompop S Teles Ricardo R Offenbacher Steven S

Journal of periodontology 20170407 7

<h4>Background</h4>The single nucleotide polymorphism (SNP) context of a previously identified periodontitis-associated locus is investigated, and its association with microbial, biologic, and periodontal disease clinical parameters is examined.<h4>Methods</h4>A 200-kb spanning region of 1q12 previously highlighted in a genome-wide association scan among 4,766 European American individuals (SNP rs1633266) was annotated. Two haplotype blocks were selected. Association of these polymorphisms with ...[more]

PMID: 28387608

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Project description:BackgroundNumerous genetic variations in inflammasome components are linked to prevalent disorders in the general population, including periodontitis and cardiovascular illness. Polymorphisms in the genes play a critical in the initiation and development of inflammatory diseases. The limited study on AIM2 gene variation associated with inflammatory disease and no study of PYCARD gene variation associated with inflammatory disease.ObjectiveThis case-control study was to examine the association between the single nucleotide polymorphism of AIM2 and Pycard genes with susceptibility to periodontitis with and without coronary heart disease, to determine interleuken-18 and gasdermin D levels in the saliva of periodontitis with and without coronary heart disease patients, as well as their correlation with salivary interleuken-18 and gasdermin D levels and clinical periodontal parameters.MethodsThe present study recruited 120 participants: 30 were healthy subjects (control, C), 30 had generalized periodontitis (P), 30 had atherosclerosis coronary heart disease with clinically healthy periodontium (AS-C), and 30 had atherosclerosis coronary heart disease with generalized periodontitis (AS-P). All individuals' demographic data recorded, saliva and blood samples collected, then periodontal characteristics were detailed. These parameters include plaque index, bleeding on probing, probing pocket depth, and clinical attachment loss. AIM2 and Pycard gene polymorphisms were analyzed by polymerase chain reaction assay, electrophoresis and sequencing. An enzyme-linked immunosorbent assay (ELISA) was conducted to determine the level of interleuken-18 and gasdermin D in their saliva.ResultsThe study result of high frequency (T) in single-nucleotide polymorphisms. The high genotypes distribution of GT and TT genotypes in the AIM2 gene and the CT and TT genotypes in the Pycard gene were detected in the periodontitis, atherosclerosis coronary heart disease with healthy periodontium and atherosclerosis coronary heart disease with generalized periodontitis groups as compared to control group. Elevation of salivary interleuken-18 and gasdermin D levels in three patients' groups compared to healthy controls. Both these single-nucleotide polymorphisms also significantly correlated with higher salivary interleuken-18 and gasdermin D levels and worse clinical indices of periodontitis.ConclusionSingle-nucleotide polymorphisms in the AIM2 and Pycard genes are associated with an increased risk of developing periodontitis with and/or without coronary heart disease. Elevation of salivary interleuken-18 and gasdermin D levels associated and impacted on periodontitis with and/or without coronary heart disease. These single-nucleotide polymorphisms may provide evidence for a genetic role in the pathogenesis of periodontitis with and without atherosclerosis coronary heart disease.

Project description:BackgroundDysregulated immune response arising in the periphery can induce depressive symptoms through neuroimmune interactions. Inflammatory oral pathology can be a potent inducer of chronic neuroimmune response relevant to depression. We aimed to synthesize available evidence for the association between inflammatory periodontal diseases (IPD) and major depression (MD) in relation to a broad range of biomarkers.MethodsMedline, Embase, PsycInfo, Cochrane Library, Web of Science and Scopus databases were searched from inception until January 27, 2022. Search terms included subject headings and synonyms for inflammatory periodontal disease and depression. Studies that reported data on both depression and inflammatory periodontal disease as categories along with measurement of a biomarker were considered. Two reviewers independently selected the articles for inclusion, extracted data and assessed the quality of each study. The protocol for this study was registered with PROSPERO, CRD42021215524.ResultsTwenty-eight studies were included in the final review-eleven cross-sectional studies, seven case-control studies, and six prospective cohort studies conducted in humans; the remaining four were experimental animal studies. Eighteen studies including all animal studies reported a positive association between depression and periodontal disease; one study reported a negative association and another nine studies found no such associations. Twenty studies reported mixed associations between IPD and biomarkers (i.e, salivary, serum, urine or gingival crevicular fluid cortisol, C reactive protein, cytokines, etc.). Biomarkers related to depression were gingival crevicular fluid cortisol, interleukin 6 (IL-6), Il-1β, immunoglobulin G against Bacterioides forsythus; root canal lipopolysaccharides; blood IL-6, IL-1β, cortisol, advanced oxidation protein products, nitric oxide metabolites, lipid hydroperoxides and trapping antioxidant parameter; whereas five studies found no associations between depression and a biomarker. Although animal studies showed interaction of immune, inflammatory and neurotrophic biomarkers in the relationship between depression and periodontal disease, human studies showed mixed findings. In most studies, there were risks of bias due to the sample selection and assessment protocol. Study heterogeneity and limited number of comparable studies reporting on shared biomarkers precluded a meta-analysis.ConclusionImmune-inflammatory contribution to depression was evident in the context of inflammatory periodontal diseases, but whether biomarkers mediate the associations between IPD and MD needs to be tested through methodologically rigorous studies aiming specifically at this hypothesis.

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Common Polymorphisms in IFI16 and AIM2 Genes Are Associated With Periodontal Disease.

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Common Polymorphisms in IFI16 and AIM2 Genes Are Associated With Periodontal Disease.

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