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Open AccessJournal ArticleDOI

Exploring the genetic basis of chronic periodontitis: a genome-wide association study

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TLDR
A genome-wide association study of CP was carried out in a cohort of 4504 European Americans participating in the Atherosclerosis Risk in Communities Study, finding suggestive evidence of association for six loci, including NIN, NPY, WNT5A for severe CP and NCR2, EMR1, 10p15 for moderate CP.
Abstract
Chronic periodontitis (CP) is a common oral disease that confers substantial systemic inflammatory and microbial burden and is a major cause of tooth loss. Here, we present the results of a genome-wide association study of CP that was carried out in a cohort of 4504 European Americans (EA) participating in the Atherosclerosis Risk in Communities (ARIC) Study (mean age-62 years, moderate CP-43% and severe CP-17%). We detected no genome-wide significant association signals for CP; however, we found suggestive evidence of association (P < 5 × 10(-6)) for six loci, including NIN, NPY, WNT5A for severe CP and NCR2, EMR1, 10p15 for moderate CP. Three of these loci had concordant effect size and direction in an independent sample of 656 adult EA participants of the Health, Aging, and Body Composition (Health ABC) Study. Meta-analysis pooled estimates were severe CP (n = 958 versus health: n = 1909)-NPY, rs2521634 [G]: odds ratio [OR = 1.49 (95% confidence interval (CI = 1.28-1.73, P = 3.5 × 10(-7)))]; moderate CP (n = 2293)-NCR2, rs7762544 [G]: OR = 1.40 (95% CI = 1.24-1.59, P = 7.5 × 10(-8)), EMR1, rs3826782 [A]: OR = 2.01 (95% CI = 1.52-2.65, P = 8.2 × 10(-7)). Canonical pathway analysis indicated significant enrichment of nervous system signaling, cellular immune response and cytokine signaling pathways. A significant interaction of NUAK1 (rs11112872, interaction P = 2.9 × 10(-9)) with smoking in ARIC was not replicated in Health ABC, although estimates of heritable variance in severe CP explained by all single nucleotide polymorphisms increased from 18 to 52% with the inclusion of a genome-wide interaction term with smoking. These genome-wide association results provide information on multiple candidate regions and pathways for interrogation in future genetic studies of CP.

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Assessment of Bidirectional Relationships Between Polycystic Ovary Syndrome and Periodontitis: Insights From a Mendelian Randomization Analysis.

TL;DR: In this paper, a two-sample Mendelian randomization (MR) study was conducted to investigate the bidirectional relationship between genetically predicted polycystic ovary syndrome (PCOS) and periodontitis.
Book ChapterDOI

Personalized Oral Medicine and the Contemporary Health Care Environment

TL;DR: The completion of the Human Genome Project, recent cost-effective and rapid whole genome-wide sequencing methods, and instrumentation, along with bioinformatics to handle and annotate data collections, enable clinicians to formulate decisions based upon the patient’s genotype and phenotype.
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Biologically informed stratification of periodontal disease holds the key to achieving precision oral health

TL;DR: The central thesis is that, with sufficient data and appropriate methods, it is possible to segregate symptom-based and phenotypically based categories of patients into clinically and biologically similar groups that are optimal for investigations seeking to unveil the genomic basis of periodontal disease susceptibility.
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Causal Association Between Periodontitis and Type 2 Diabetes: A Bidirectional Two-Sample Mendelian Randomization Analysis

TL;DR: This study based on genetic data does not support a bidirectional causal association between periodontitis and type 2 diabetes.
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Impaired function of epithelial plakophilin-2 is associated with periodontal disease.

TL;DR: In this article, the authors compared the ex vivo expression of Plakophilin-2 (PKP2) in periodontitis gingival biopsies collected from 11 periodontally healthy, 10 experimental gingivitis, and 10 chronic periodontal dysbiosis subjects.
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Journal ArticleDOI

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Journal ArticleDOI

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