Osseointegrated implant failure associated with MMP-1 promotor polymorphisms (-1607 and -519).

PURPOSE: Two polymorphisms in the promoter region of human MMP-1 gene, an insertion of a guanine at position -1607 and A-519G substitution, have been shown to increase the transcriptional activity of these matrix metalloproteinases (MMPs). The objective of this study was to investigate the possible relationship between these polymorphisms and early implant failure. MATERIALS AND METHODS: A sample of 104 nonsmokers was divided into 2 groups: a test group comprising 44 patients with 1 or more early failed implants and a control group consisting of 60 individuals with 1 or more healthy implants. Genomic DNA from oral mucosa was amplified by polymerase chain reaction and analyzed by restriction endonucleases. The significance of the differences in observed frequencies of polymorphisms were assessed by chi2 tests. RESULTS: The G-1607GG polymorphism with the genotype G/G was observed at a frequency of 62% in the control group, while in the test group this genotype was noted in 34% of the individuals (P = .011). The allele G was found at a frequency of 75% in control group and 61.66% in the test group (P = .05). No significant differences were seen in the genotypes and allele frequencies in the A-519G polymorphism among the groups (P = .064 and P = .124, respectively). The distribution of the haplotypes arranged as alleles and genotypes showed a significant difference between control and test groups (P = .031 and P = .002, respectively). CONCLUSION: On the basis of this study of 60 patients who experienced no implant failure and 44 patients who experienced implant failure, the results suggest that G-1607GG polymorphism in MMP-1 gene is associated with early implant failure, while A-519G polymorphism in MMP-1 gene does not show a significant relationship with implant loss. This study also suggests that haplotypes G-1607GG and A-519G of MMP-1 may be associated with the osseointegration process.

Analysis of MMP-1 and MMP-9 promoter polymorphisms in early osseointegrated implant failure.

PURPOSE: Polymorphisms, such as a guanine inserted at position -1607 in the promoter region of human matrix metalloprotenase 1 (MMP-1) or a C-1562T substitution in the MMP-9 gene, have been shown to increase the transcriptional activity of these MMPs. The objective of this study was to investigate the possible relationship between these polymorphisms and early implant failure. MATERIALS AND METHODS: Genomic DNA from oral mucosa was amplified by polymerase chain reactions (PCRs) and analyzed by restriction endonucleases. The significance of the differences in observed frequencies of polymorphisms was assessed by the chi-square and Fisher exact tests. RESULTS: The test group comprised patients with early failure of osseointegrated oral implants. In the MMP-1 gene, 2G allele was observed in 25% of the control group and in 50% of the test group (P = .013). The genotype 1G/1G was found in 61.5% of the control group, while all patients in the test group had the genotype 1G/2G (P < .001). No differences were seen in the allele and genotype frequencies in the MMP-9 gene among the groups (P = .15 and P = .13, respectively). DISCUSSION AND CONCLUSION: These results suggest that polymorphism in the promoter region of the MMP-1 gene may be associated with early implant failure, while polymorphism in the promoter region of the MMP-9 gene may not have a relationship with implant loss.

Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta.

Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI. The object of this study was to evaluate evidence of etiology for the six major candidate gene loci in two Brazilian families with AI. Genomic DNA was obtained from family members and all exons and exon-intron boundaries of the ENAM, AMBN, AMELX, MMP20, KLK4 and Amelotin gene were amplified and sequenced. Each family was also evaluated for linkage to chromosome regions known to contain genes important in enamel development. The present study indicates that the AI in these two families is not caused by any of the known loci for AI or any of the major candidate genes proposed in the literature. These findings indicate extensive genetic heterogeneity for non-syndromic AI.

Evaluation of the relationship between interleukin-1 gene cluster polymorphisms and early implant failure in non-smoking patients.

OBJECTIVE: The aim of the present study was to investigate the relationship between specific polymorphisms of the interleukin-1 gene cluster and the early failure of osseointegrated implants. MATERIAL AND METHODS: The subject population was composed by a test group comprising 28 non-smoking patients (mean age 52.7) that had suffered one or more early implant failures and by a control group consisting of 34 individuals (mean age 43.3) with one or more healthy implants. Genomic DNA from buccal mucosa was amplified by the polymerase chain reaction (PCR), followed by restriction fragment length polymorphism (RFLP) and submitted to polyacrylamide gel electrophoresis to distinguish the alleles of the interleukin-1A (-889), interleukin-1B (+3953), interleukin-1B (-511) and interleukin-RN (intron 2) gene polymorphisms. Differences in the allele and genotype frequencies between control and test groups were assessed by chi(2) test or by Monte Carlo simulations (P<0.05). Haplotype frequencies, linkage disequilibrium and Hardy-Weinberg equilibrium were also estimated. RESULTS: No statistically significant differences were found in the genotype distribution or allelic frequencies of the polymorphisms. No differences were observed between control and test groups when different interleukin-1 gene cluster haplotypes were compared. Nevertheless, the interleukin-1A (-889) and interleukin-1B (+3953) polymorphic sites were in strong linkage disequilibrium (P=0.00014 for control group and P=0.0238 for the test group). CONCLUSION: This study suggests that polymorphisms in the interleukin-1 gene cluster are not associated with early implant failure in a non-smoking Brazilian population.