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  • Title: Evaluation of DEFB1 polymorphisms in individuals with chronic periodontitis and diabetes mellitus type 2 in a population of northeastern Brazil.
    Author: Soraia Aguiar de Melo Dias R, Carlos Mourão Pinho R, Almeida FR, Alfredo Farias Bandeira F, Celerino da Silva R, Crovella S, de Carvalho Farias Vajgel B, Cimões R.
    Journal: Spec Care Dentist; 2018 Jul; 38(4):227-233. PubMed ID: 29846960.
    Abstract:
    AIMS: The role of genetic variations in genes related to innate response, as β-defensin-1 (DEFB1), in the context of chronic periodontitis (CP) and diabetes mellitus type 2 (DM2), is still not clear. The present study evaluates the distribution of DEFB1 single nucleotide polymorphisms (SNPs) 5'-untranslated (5'UTR) region and its relation with the CP in DM2 individuals in northeastern Brazilians. METHODS: Two hundred and eighty individuals participated in the study, being 116 DM2+CP, 95 CP, and 69 healthy individuals. Three known DEFB1 functional SNPs [-52 G > A (rs1799946), -44 C > G (rs1800972), -20 G > A (rs11362)] were genotyped with allele-specific assays. RESULTS: Association was found for the DEFB1 -20 G > A SNP. The G allele, the GA and GG genotypes were significantly (P < 0.05) more frequent in the DM2+CP (59.5%, 50%, and 34.5%, respectively) and CP (61%, 44.2%, and 38.9%, respectively) than in healthy individuals (26.8%, 36.2%, and 8.7%, respectively). The GCG and ACG combinations (-52, -44, -20) were significantly more frequent among DM2+CP and CP than in the healthy individuals. CONCLUSION: The results indicate that genetic variations of DEFB1 gene (SNP-20: G allele and GA and GG genotypes) and the DEFB1 5'UTR haplotypes (GCG and ACG) may be associated with a susceptibility to CP in DM2 individuals as well as CP individuals without DM2.
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