Variation in the CXCR1 gene (IL8RA) is not associated with susceptibility to chronic periodontitis

<p>Abstract</p> <p>Background</p> <p>The chemokine receptor 1 CXCR-1 (or IL8R-alpha) is a specific receptor for the interleukin 8 (IL-8), which is chemoattractant for neutrophils and has an important role in the inflammatory response. The polymorphism rs2234671 at position Ex2+860G > C of the <it>CXCR1 </it>gene causes a conservative amino acid substitution (S276T). This single nucleotide polymorphism (SNP) seemed to be functional as it was associated with decreased lung cancer risk. Previous studies of our group found association of haplotypes in the <it>IL8 </it>and in the <it>CXCR2 </it>genes with the multifactorial disease chronic periodontitis. In this study we investigated the polymorphism rs2234671 in 395 Brazilian subjects with and without chronic periodontitis.</p> <p>Findings</p> <p>Similar distribution of the allelic and genotypic frequencies were observed between the groups (p > 0.05).</p> <p>Conclusions</p> <p>The polymorphism rs2234671 in the <it>CXCR1 </it>gene was not associated with the susceptibility to chronic periodontitis in the studied Brazilian population.</p

TNFA and IL10 Gene Polymorphisms are not Associated with Periodontitis in Brazilians

IL-10 and TNF-α are cytokines that have complex and opposing roles in the inflammatory responses. G/A polymorphisms at position –1082 of IL10 and –308 of TNFA genes have been reported to influence the expression of IL-10 and TNF-α, respectively. The aim of this study was to investigate the association between the IL10 (-1082) and TNFA (- 308) gene polymorphisms with different clinical forms or severity of periodontitis in a sample of Brazilian individuals. DNA was obtained from oral swabs of 165 Brazilian individuals, which were divided into three groups: individuals with chronic periodontitis, aggressive periodontitis and individuals without clinical evidence of periodontitis. Evaluation of IL10 and TNFA polymorphisms was performed by RFLP analysis. Statistical analysis of data was performed using the χ2 likelihood ratio and Fisher`s exact test. No significant differences in the genotype and allele distribution of either IL10 or TNFA were observed among individuals with different clinical forms or with different degrees of severity of periodontitis. Moreover, combined analysis of IL10 and TNFA polymorphisms did not show any association with periodontal status. As conclusion, the IL10 and TNFA gene promoter polymorphisms investigated are not associated with different clinical forms of periodontitis or with severity of the disease in the Brazilian population polymorphisms

Different contribution of BRINP3 gene in chronic periodontitis and peri-implantitis: A cross-sectional study

Background: Peri-implantitis is a chronic inflammation, resulting in loss of supporting bone around implants. Chronic periodontitis is a risk indicator for implant failure. Both diseases have a common etiology regarding inflammatory destructive response. BRINP3 gene is associated with aggressive periodontitis. However, is still unclear if chronic periodontitis and peri-implantitis have the same genetic background. The aim of this work was to investigate the association between BRINP3 genetic variation (rs1342913 and rs1935881) and expression and susceptibility to both diseases. Methods: Periodontal and peri-implant examinations were performed in 215 subjects, divided into: healthy (without chronic periodontitis and peri-implantitis, n = 93); diseased (with chronic periodontitis and peri-implantitis, n = 52); chronic periodontitis only (n = 36), and peri-implantitis only (n = 34). A replication sample of 92 subjects who lost implants and 185 subjects successfully treated with implants were tested. DNA was extracted from buccal cells. Two genetic markers of BRINP3 (rs1342913 and rs1935881) were genotyped using TaqMan chemistry. Chi-square (p<0.05) compared genotype and allele frequency between groups. A subset of subjects (n = 31) had gingival biopsies harvested. The BRINP3 mRNA levels were studied by CT method (2δδCT). Mann-Whitney test correlated the levels of BRINP3 in each group (p<0.05). Results: Statistically significant association between BRINP3 rs1342913 and peri-implantitis was found in both studied groups (p<0.04). The levels of BRINP3 mRNA were significantly higher in diseased subjects compared to healthy individuals (p<0.01). Conclusion: This study provides evidence that the BRINP3 polymorphic variant rs1342913 and low level of BRINP3 expression are associated with peri-implantitis, independently from the presence of chronic periodontitis

Association between PAX-9 promoter polymorphisms and hypodontia in humans

Hypodontia, the congenital absence of one or a few teeth, is one of the most common alterations of the human dentition. The most common permanent missing teeth are the third molars, second premolars, and maxitlary lateral incisors. Hypodontia does not represent a serious public health problem, but it may cause masticatory and speech dysfunctions, and esthetic problems. PAX9 is believed to play an important rote in tooth development. It is expressed at initiation, bud, cap, and bell stages of odontogenesis. Mutations in PAX9 coding sequences have been implicated in autosomal dominant oligodontia affecting predominantly permanent molars and second premolars. Here, we report two polymorphisms in the promoter region of PAX9 gene that are associated with hypodontia. DNA was extracted from buccal epithelial. cells of 106 healthy Control individuals and of 102 unrelated individuals with hypodontia. PCR-RFLP was employed in the investigation of G-1031A and T-912C polymorphisms. Significant differences were obtained comparing Control and Test groups. Alleles G and T were found at a significant higher frequency in individuals with hypodontia, whereas alleles A and C were more frequent in Control subjects, p = 0.0094 and 0.0086, respectively. The GT haplotype was significantly more prevalent in the hypodontia group, white the AC haplotype was more frequent in the Control group. These results indicate that polymorphisms in the promoter region of PAX9 gene may have an influence on the transcriptional activity of this gene and are associated with hypodontia in humans. (c) 2005 Elsevier Ltd. AR rights reserved.501086187

Investigation of IL4 gene polymorphism in individuals with different levels of chronic periodontitis in a Brazilian population

Background: Cytokines are key factors that mediate the inflammatory process during periodontal disease. Recent works have shown that the levels of cytokine expression are regulated by genetic polymorphisms, and that these variations can interfere with the progression of disease. The-590 (C-->T) polymorphism of the IL4 gene is associated with high levels of IgE in asthmatic families, and the frequency of the T allele was increased in asthmatic children. The concentration of IgE in gingival tissue was found to be elevated in patients with periodontitis. Objective: In this study the relationship between the-590 (C-->T) polymorphism in the IL4 gene and different levels of chronic periodontal disease was investigated. Material and Methods: DNA was extracted from buccal epithelial cells of 113 unrelated adult individuals with different levels of periodontitis. The PCR-RFLP technique was used to investigate the polymorphism in the promoter of IL4 gene. Results: No significant differences in the allele and genotype frequencies of the polymorphism were found between control and groups with periodontal disease. Conclusion: We conclude that the-590 (C-->T) polymorphism in the IL4 gene is not associated with the susceptibility to chronic periodontal disease.30434134

MMP-1 promoter polymorphism: association with chronic periodontitis severity in a Brazilian population

Background: A single nucleotide polymorphism was described in the promoter region of the human MMP-1 gene, and this polymorphism has been associated with risk of cancer metastasis and inflammatory diseases. In this paper, we studied the possible relationship between the MMP-1 promoter polymorphism and the severity of chronic periodontitis. Methods: Genomic DNA from oral mucosa was amplified by PCR and analyzed by restriction endonuclease. The alleles were separated by polyacrylamide gel electrophoresis. The significance of the differences in observed frequencies of polymorphism in moderate and severe disease and healthy groups was assessed by Chi-squared test. Results: In the healthy group, the 2G allele was observed with a frequency of 48.7%, while in severely diseased patients the 2G allele was seen in 69.2% (P = 0.0344). The genotype 2G/2G was found in 46.15% of the group with severe periodontitis, and 24.3% and 25.0%, respectively, of the healthy and moderate groups (P = 0.0647). Conclusion: These results show that a polymorphism in the promoter region of MMP-1 gene is associated with the severe chronic periodontitis phenotype in non-smokers.30215415

Investigation of an IL-2 polymorphism in patients with different levels of chronic periodontitis

Background: Interleukin-2 (IL-2) is a pro-inflammatory cytokine derived from Th1 cells. This cytokine is involved in B-cell activation and stimulates macrophages, natural killer cells, T-cell proliferation and osteoclast activity. IL-2 has been also implicated in the stimulation of osteoclast activity in bone resorption. Objective: In this study the relationship between the polymorphism - 330 (T-->G) in the IL-2 gene and different levels of chronic periodontal disease was investigated. Materials and Methods: DNA was extracted from buccal epithelial cells of 113 unrelated adult individuals acting as controls and with different levels of periodontitis. The PCR-RFLP technique was used to investigate the polymorphism in the promoter of IL-2 gene. Results: When comparing the data of three groups of patients (Control, Moderate and Severe) we did not find significant differences between the studied IL-2 polymorphism and severity levels of PD. However, when the Control and Moderate phenotypes were grouped together and compared with genotypes TT vs. TG/GG, a significant difference was observed. Conclusion: We conclude that the - 330 (T-->G) polymorphism in the IL-2 gene is associated with the severity of periodontal disease. The results presented in this study suggest an active role of IL-2 in the pathogenesis of periodontal disease.29758759

Analysis of the TGF-beta(1) promoter polymorphism (C-509T) in patients with chronic periodontitis

Background: A polymorphism in the promoter region of the transforming growth factor beta-1 (TGF-beta (1) ) gene was described at position -509. This polymorphism represents a C-to-T base exchange, which creates a YY1 consensus sequence in an area involved with down transcription regulation. This polymorphism has been associated with risk for asthma and allergies. In this study we investigated the association between this polymorphism and chronic periodontitis severity. Methods: Genomic DNA from oral mucosa of 87 Caucasian subjects was amplified by PCR, and digested with Eco81I restriction endonuclease. The alleles were separated by polyacrylamide gel electrophoresis. The differences in genotype distribution from those expected by Hardy-Weinberg equilibrium, and the significance of the differences in observed frequencies of the polymorphism in moderate and severe disease and healthy groups were assessed by the chi (2) test. Results: There was a difference in the presence of the different alleles and genotypes among the healthy, moderate and severe periodontitis groups. The allele T was seen at 57.7% in the group with severe periodontitis and 37.8% and 35.4% in the healthy group and moderate periodontitis group, respectively (p =0.0387). The genotype T/T was found at 38.5% in the group with severe periodontitis, and at a frequency of 8% in the healthy group (p =0.0258). Conclusion: These results demonstrate that the polymorphism at bp -509 in the TGF-beta (1) promoter may have a small effect on the modulation of the inflammatory process during periodontitis.30651952

Interleukin 10 gene promoter polymorphisms are associated with chronic periodontitis

Background: Chronic periodontitis (CP) is characterized by an inflammation in the supporting tissues of the teeth caused primarily by bacterial infection. Interleukin 10 (IL10) is an anti-inflammatory cytokine whose genetic polymorphisms may influence the expression of the protein. Objective: In this study we investigated the hypothesis that single-nucleotide polymorphisms (SNPs) in the promoter of IL10 gene might be related to CP. Materials and Methods: DNA was obtained from n=67 CP patients and n=43 control subjects. All studied individuals were non-smokers. The -1087 SNP was investigated by DNA sequencing, and the -819 and -592 SNPs by restriction fragment length polymorphism of PCR products. Results: Frequencies of -819 and -592 SNPs showed differences between the control and CP groups. The ACC haplotype was more prevalent in the control group and the ATA haplotype more prevalent in the CP group. The ATA haplotype seemed to increase susceptibility to CP in women (odds ratio (OR)=2.57). The heterozygous haplotype GCC/ACC was predominant in the control group (OR=8.26; p=0.001). Conclusions: Specific haplotypes and SNPs in IL10 gene are associated with susceptibility to CP in Brazilian patients.31644344