IADR Abstract Archives
Chronic Periodontitis and Periapical Pathology Share Similar Genetic Etiological Factors
Objectives: The purpose of this study was to identify associations between periodontal disease, periapical lesions and genes present in the Mammalian target of rapamycin (mTOR) signaling, which is a central regulator for protein synthesis, and Endoplasmic Reticulum stress (ER stress), which is an essential pathway to maintain intracellular homeostasis.
Methods: DNA samples extracted from saliva from 654 individuals were genotyped according to presence of chronic periodontitis and periapical lesions. Samples were obtained from the Dental Registry and DNA Repository project at the University of Pittsburgh. Twenty-seven polymorphisms in eight genes were selected for genotyping.
All samples were genotyped by the use of Taqman chemistry; allele frequencies were calculated and Hardy–Weinberg equilibrium confirmed. Analyses were performed comparing genotypes between affected and unaffected individuals for each phenotype, using the software PLINK with an alpha of 0.002.
Results: We found association between the presence of periapical lesions and RHEB rs3753151 (p=0.0002), and also two SNPs in XBP1 (rs2097461, p=0.04; and rs2239815, p=0.05) and ERN1 (rs196929, p=0.05, OR=1.56; 95% C.I. 0.99-2.44; and rs196950, p=0.02, OR=1.65; 95% C.I. 1.07-2.53) showed a trend for association. For chronic periodontitis, we found trends for association with two SNPs in ERN1 (rs196929 for both allele and genotype, p=0.008, OR=1.87; 95% C.I. 1.16-3.01 and p=0.03, respectively); rs196950 (p=0.04, OR=1.51; 95% C.I. 1.00-2.28), and for allele distribution and TSC1 rs1050700 (p=0.04, OR=1.59; 95% C.I. 1.00-2.53).
Conclusions: Our studies show that both mTOR pathway and ER stress phenomenon are associated with conditions affecting bone and teeth. The results support that different levels of bone resorption/formation are associated with those genes, suggesting that periodontitis and periapical lesions share similar underlying genetic etiological factors, which allows us to hypothesize that instead of individually, they should be studied in conjunction in human populations.
Methods: DNA samples extracted from saliva from 654 individuals were genotyped according to presence of chronic periodontitis and periapical lesions. Samples were obtained from the Dental Registry and DNA Repository project at the University of Pittsburgh. Twenty-seven polymorphisms in eight genes were selected for genotyping.
All samples were genotyped by the use of Taqman chemistry; allele frequencies were calculated and Hardy–Weinberg equilibrium confirmed. Analyses were performed comparing genotypes between affected and unaffected individuals for each phenotype, using the software PLINK with an alpha of 0.002.
Results: We found association between the presence of periapical lesions and RHEB rs3753151 (p=0.0002), and also two SNPs in XBP1 (rs2097461, p=0.04; and rs2239815, p=0.05) and ERN1 (rs196929, p=0.05, OR=1.56; 95% C.I. 0.99-2.44; and rs196950, p=0.02, OR=1.65; 95% C.I. 1.07-2.53) showed a trend for association. For chronic periodontitis, we found trends for association with two SNPs in ERN1 (rs196929 for both allele and genotype, p=0.008, OR=1.87; 95% C.I. 1.16-3.01 and p=0.03, respectively); rs196950 (p=0.04, OR=1.51; 95% C.I. 1.00-2.28), and for allele distribution and TSC1 rs1050700 (p=0.04, OR=1.59; 95% C.I. 1.00-2.53).
Conclusions: Our studies show that both mTOR pathway and ER stress phenomenon are associated with conditions affecting bone and teeth. The results support that different levels of bone resorption/formation are associated with those genes, suggesting that periodontitis and periapical lesions share similar underlying genetic etiological factors, which allows us to hypothesize that instead of individually, they should be studied in conjunction in human populations.