RESUMO
OBJECTIVE: Previous studies have indicated that type-1 and type-2 interleukin-1 (IL-1) receptors (IL-1R1 and IL-1R2) play important roles in periodontitis progression. We investigated the association between periodontitis and polymorphisms in the IL-1R1 and IL-1R2 genes (IL1R1 and IL1R2). DESIGN: We searched for genetic variants in IL1R1 and IL1R2 in 24 Japanese patients with aggressive periodontitis (AgP) and 24 periodontally healthy controls. Thirty-eight single nucleotide polymorphisms (SNPs) were identified within genomic regions containing all exons and relevant exon-intron boundaries in IL1R1 and IL1R2. Possible associations of each gene locus with AgP were investigated in 119 AgP patients and 102 periodontally healthy controls using allelotypes, genotypes, and haplotypes. RESULTS: Significant differences were noted in the frequencies of 3 SNPs in IL1R2 (rs3819370, rs3218974 and rs3218977) for AgPs and controls (p=0.012, p=0.008, and p=0.038, respectively), after adjustment for gender and smoking status in the additive model (p=0.016, p=0.007, and p=0.027, respectively) and 2 haplotypes (p=0.010 and p=0.011, respectively) constructed from 2 SNPs (rs3819370 and rs3218974) that showed the lowest p-values after adjustment of covariates in additive models. CONCLUSION: A genetic susceptibility locus for AgP may lie within or close to the IL1R2 locus. Further studies in other populations are necessary to confirm these results.
Assuntos
Periodontite Agressiva/genética , Receptores de Interleucina-1/genética , Receptores de Interleucina-2/genética , Adulto , Alelos , Estudos de Casos e Controles , Éxons , Feminino , Predisposição Genética para Doença , Variação Genética , Genótipo , Haplótipos , Humanos , Íntrons , Japão , Masculino , Polimorfismo de Nucleotídeo Único , Fatores de RiscoRESUMO
Recent advances in DNA microarray technology have enabled the identification of small alterations throughout the genome. We used standard karyotype analysis, followed by DNA microarray analysis and PCR to precisely map the chromosomal 4p deletion and determine the deletion breakpoints in the genome of an epileptic patient. The karyotype of the patient was 46,XY,del(4)(p15.2p15.3) as determined by G-banding analysis. We used a high-density oligonucleotide genotyping array to estimate the size of the deletion (4.5 Mb) and to locate the breakpoints within a 9-kb region on one side of the deletion and a 100-kb region on the other side. We amplified by PCR and sequenced the genomic region encompassing the breakpoints, and mapped the deletion to regions extending from 21648457 to 26164287 and from 26164505 to 26167493, respectively (chromosome 4 of NCBI Homo sapiens Genome Build 35.1). The deletion involves 18 genes, one of which (CCKAR) is partially deleted.
Assuntos
Quebra Cromossômica/genética , Epilepsia/genética , Genômica , Deleção Cromossômica , Cromossomos Humanos Par 4/genética , Genoma Humano/genética , Genótipo , Humanos , Análise de Sequência com Séries de OligonucleotídeosRESUMO
Many studies have attempted to define the relationship between postmenopausal osteoporosis and periodontal disease. Most studies support a positive association between these common diseases; however, many are cross-sectional in nature, include relatively small sample sizes, and have inadequate control of potential confounding factors, such as age, gender, hormone intake, race, and smoking, limiting our understanding of the nature of the relationship between these diseases. Clinical conditions causing low estrogen environments in postmenopausal women allow increased local production of the bone-active cytokine and the progression of periodontal disease. Prospective studies are needed to confirm or refute a causal relation.
