RESUMO
BACKGROUND AND OBJECTIVE: Periodontitis in one of the most prevalent dental diseases. Despite numerous studies have investigated its aetiopathogenetic factors, few works have focused on its genetic predisposition and most of them took into account only candidate genes. Therefore, we conducted a Genome Wide Association Study in an Italian isolated population aimed at uncovering genetic variants that predispose to this disorder. METHODS: Diagnosis of chronic periodontitis was made following the criteria of the American Academy of Periodontology. Patients with chronic periodontitis were grouped into different categories: slight, severe, localized and generalized. A control group composed by people without signs of periodontitis or gingivitis was defined. DNA was genotyped using 370k Illumina chips. Linear mixed model regression was used to test the association between each single nucleotide polymorphism (SNP) (independent variable) and the periodontitis status (dependent variable), controlling for confounders sex, age and smoking. The genomic kinship matrix was also used as random effect. RESULTS: Four SNPs on the gene EFCAB4B resulted significantly associated to localized periodontitis (P < 5 × 10-8 ), with the best hit on the rs242016 SNP (P = 1.5 × 10-8 ). CONCLUSION: We have identified a novel significant association between the EFCAB4B gene and localized periodontitis. These results open a new perspective in the understanding of genetic factors contributing to this common disorder.
Assuntos
Proteínas de Ligação ao Cálcio/genética , Periodontite Crônica/genética , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , DNA/genética , Feminino , Genótipo , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Análise de Regressão , Adulto JovemRESUMO
Background: Scoring systems have been widely used to evaluate the severity and activity of oral lichen planus (OLP). The aim of the present study was to compare two existing (one modified) scoring systems in the evaluation of OLP severity and correlation with pain. Three differently experienced raters were involved. Material and Methods: Consecutive patients with OLP were assessed for pain using the Visual Analogue Scale and examined at 10 intraoral sites before starting (T0) and three weeks after (T1) steroid therapy (Clobetasol). Three differently experienced raters evaluated photographs using two scoring systems designated White-Erosive-Atrophic (WEA) modified from an older WEA system (WEA-MOD) and Reticular-erythematous-Ulcerative (REU) systems. WEA-MOD Kendall's W and interclass correlation coefficient were calculated and correlation between REU/WEA-MOD and pain was calculated using Spearman coefficient. Results: Most patients showed lesions on buccal mucosa (85-93,5%) and maxillary/mandibular gingivae (31,8- 31,2%), predominantly reticular. At T0, Kendall-W coefficients of 0.89 and 0.74 were obtained for the REU and WEA respectively. At T1, Kendall-W coefficients of 0.83 and 0.58 were obtained for the REU and WEA respectively. Interclass correlation coefficient ranged from 0.87 to 0.90 for REU and from 0.58 to 0.87 for WEA. REU and WEA scores significantly decreased after therapy (p< 0.000) as well as VAS (p< 0.05). REU score showed correlation with VAS. Conclusions: All the raters achieved comparable measures using REU whereas WEA and WEA-MOD seem less reproducible. REU seems to correlate to disease activity and pain (AU)
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