作者: Diego G. Bussaneli , Paula C. Trevilatto , Alejandro J. Almarza , Hongjiao Ouyang , Alexandre R. Vieira
DOI: 10.1159/000492675
关键词: Bone disease 、 Immunology 、 Osteoporosis 、 Allele frequency 、 Periodontitis 、 Phenotype 、 PI3K/AKT/mTOR pathway 、 Genotype 、 Medicine 、 Genotyping
摘要: The purpose of this cohort study was to identify associations between combined oral and bone disease phenotypes genes present in cell regulatory pathways. studied pathways play important roles cellular growth, proliferation, differentiation, homeostasis. DNA samples extracted from whole saliva 3,912 individuals were genotyped these data analyzed according dental caries experience, periapical lesions, periodontitis, osteoporosis, or temporomandibular joint discomfort. Samples obtained the Dental Registry Repository project at University Pittsburgh. Twenty-seven polymorphisms eight related mTOR endoplasmic reticulum stress selected for genotyping. Allele frequencies Hardy-Weinberg equilibrium calculated. Analyses performed comparing genotypes affected unaffected each phenotype, as well associated combined. For all analyses, we used software PLINK with an alpha 0.002. Borderline multiple variants several found, suggesting that both may be involved susceptibility conditions affecting cavity bones. When combining patients had concomitant caries, pathology, markers RHEB showed statistically significant association. Multiple teeth (i.e., lesion formation, osteoporosis) appear share similar underlying genetic etiological factors, which allow us hypothesize instead individually, they should conjunction human populations.