Dataset Information

Association between periodontal disease and Interleukin-1? +3953 and vitamin D receptor Taq1 genetic polymorphisms in an Italian caucasian population.

ABSTRACT: AIM: Periodontal diseases entail a variety of conditions affecting the periodontium. The pathogenesis results from a complex interaction of genetic and environmental factors. Although there are evidences to confirm a role of genetic determinants, the outcome of the available studies is controversial and the largest part of the research has been carried out in Asian populations. METHODS: We investigated two polymorphisms in the genes encoding Interelukin-1? (IL-1? +3953 C>T; rs1143634) and vitamin D receptor (VDR Taq1; rs731236) in 42 Caucasian patients with chronic periodontal disease and 39 Caucasian subjects, matched for age and gender. RESULTS: The IL-1? C allele was present in 100% of cases and 92% of controls (p=0.07), the T allele was present in 19% of cases and in 44% controls (p=0.017). The prevalence of the VDR Taq1 tt genotype was lower in patients as compared with controls (i.e., 10 versus 59%; p<0.01), whereas the tT and TT genotypes were disproportionally higher in patients than in cases (i.e., 62 versus 33% for tT and 29% versus 8% for TT; p<0.01). The t allele was present in 71% of cases and 92% of controls (p=0.016), whereas the T allele was present in 90% of patients with periodontal disease and in 41% controls (p<0.01). CONCLUSION: The results of this case control study at-test that the T allele of VDR Taq1 is strongly associated with periodontal disease, whereas the t allele of the IL-1? +3953 confers a slightly protection against the risk of periodontitis.

SUBMITTER: Baldini A

PROVIDER: S-EPMC3755800 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Association between periodontal disease and Interleukin-1β +3953 and vitamin D receptor Taq1 genetic polymorphisms in an Italian caucasian population.

Baldini Alberto A Nota Alessandro A Fanti Elena E Martelli Francesco Saverio FS Ottomano Cosimo C Lippi Giuseppe G

Annali di stomatologia 20130625 2

<h4>Aim</h4>Periodontal diseases entail a variety of conditions affecting the periodontium. The pathogenesis results from a complex interaction of genetic and environmental factors. Although there are evidences to confirm a role of genetic determinants, the outcome of the available studies is controversial and the largest part of the research has been carried out in Asian populations.<h4>Methods</h4>We investigated two polymorphisms in the genes encoding Interelukin-1β (IL-1β +3953 C>T; rs114363 ...[more]

PMID: 23991270

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Project description:INTRODUCTION: DNA methylation of CpG islands within the promoter region of genes is an epigenetic modification with an important role in the development of cancer and it is typically mediated by DNA methyltransferases (DNMTs). In cancer cells, global hypomethylation of the genome as a whole and regional hypermethylation of CpG islands have been reported. Four groups of DNMTs have been identified: DNMT1, DNMT2 (TRDMT1), DNMT3A and DNMT3B. DNMT2 uses the catalytic mechanism of DNMTs, but does in fact methylate RNA. Little is known about the significance of these genes in human breast cancer. In the study presented herein, we analyzed five distinct DNMT single SNPs with regard to potential associations with breast cancer risk. CASE DESCRIPTION: In this study, we genotyped 221 female Caucasian breast cancer patients and 221 female Caucasian healthy controls, and we used five allele-specific real-time polymerase chain reaction (qPCR) assays. We selected one locus within the DNMT1 gene and two loci within the DNMT3A and DNMT3B genes, respectively. Statistics were calculated using the chi-squared and Fisher's exact tests, and correlated with clinical parameters such as age, diagnosis, histology, TNM stage, hormonal receptor status, human epidermal growth factor receptor 2 (HER2) status, response to treatment and survival. Statistically significant results were obtained for correlations with the DNMT1 gene. DISCUSSION AND EVALUATION: Five genomic loci within the DNMT1, DNMT3A and DNMT3B genes were assessed. Statistical significance (P = 0.030) was identified for DNMT1 SNP (A201G, rs2228612): six women within the control group were GG homozygous (variant), while this mutation was absent in the breast cancer group. CONCLUSIONS: We conclude that women with the DNMT1 SNP (A201G, rs2228612) GG homozygous genotype (variant) have a lower risk of developing breast cancer compared to heterozygous or wildtype genotypes. To date, alterations within the DNMT1 gene have not been reported to be associated with cancer in the Caucasian population.

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Dataset Information

Association between periodontal disease and Interleukin-1? +3953 and vitamin D receptor Taq1 genetic polymorphisms in an Italian caucasian population.

Publications

Association between periodontal disease and Interleukin-1β +3953 and vitamin D receptor Taq1 genetic polymorphisms in an Italian caucasian population.

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