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Journal of Peking University(Health Sciences) ; (6): 18-22, 2022.
Article in Chinese | WPRIM | ID: wpr-936107


OBJECTIVE@#To explore the correlation of cytochrome B-245 alpha chain (CYBA) rs4673 and cholesteryl ester transfer protein (CETP) rs12720922 polymorphisms with the susceptibility of gene-ralized aggressive periodontitis (GAgP).@*METHODS@#The study was a case-control trial. A total of 372 GAgP patients and 133 periodontally healthy controls were recruited. The CYBA rs4673 and CETP rs12720922 polymorphisms were detected by matrix assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF-MS). Logistic regression models were used to analyze the correlation of CYBA rs4673 and CETP rs12720922 variants with the susceptibility of GAgP. The interaction between the two gene polymorphisms to the susceptibility of GAgP was analyzed by the likelihood ratio test. The interaction model adopted was the multiplication model.@*RESULTS@#The mean age of GAgP group and control group was (27.5±5.2) years and (28.8±7.1) years respectively. There was significant difference in age between the two groups (P < 0.05). The gender distribution (male/female) was 152/220 and 53/80 respectively, and there was no significant difference between GAgP group and controls (P>0.05). For CYBA rs4673, the frequency of CT/TT genotype in the GAgP group was significantly higher than that in the controls [18.0% (66/366) vs. 10.6% (14/132), P < 0.05]. After adjusting age and gender, the individuals with CT/TT genotype had a higher risk of GAgP (OR=1.86, 95%CI: 1.01-3.45, P < 0.05), compared with CC genotype. There was no statistically significant difference in distributions of the CETP rs12720922 genotypes (GG, AA/AG) between GAgP patients and healthy controls (P>0.05). A significant interaction between CYBA rs4673 and CETP rs12720922 in the susceptibility to GAgP was observed. The GAgP risk of the individuals with CYBA rs4673 CT/TT and CETP rs12720922 GG genotypes was significantly increased (OR=3.25, 95%CI: 1.36-7.75, P < 0.01), compared with those carrying CC and AA/AG genotypes.@*CONCLUSION@#CYBA rs4673 CT/TT genotype is associated with GAgP susceptibility. There is a significant interaction between CYBA rs4673 CT/TT genotype and CETP rs12720922 GG genotype in the susceptibility of GAgP.

Adult , Female , Humans , Male , Young Adult , Aggressive Periodontitis/genetics , Case-Control Studies , Cholesterol Ester Transfer Proteins/genetics , Cytochrome b Group , Gene Frequency , Genetic Predisposition to Disease , Genotype , NADPH Oxidases/genetics , Polymorphism, Single Nucleotide
Braz. oral res. (Online) ; 34: e014, 2020. tab, graf
Article in English | LILACS | ID: biblio-1089383


Abstract Although dental implants and bone regenerative procedures are important approaches for the reestablishment of esthetics and function in young patients with a history of generalized aggressive periodontitis (GAP), no predictable outcomes have been reported, and the host osteo-immunoinflammatory response may play a relevant role in this context. In view of the lack of molecular investigations into the bone tissue condition of young patients with periodontitis, the aim of this study was to evaluate the gene expression of bone-related factors in this population. Bone biopsies were obtained from the posterior mandible in 16 individuals previously diagnosed with GAP and on periodontal support therapy and from 17 periodontally healthy (PH) patients. The gene expression of tumor necrosis factor (TNF)-α, transforming growth factor (TGF)-β, receptor activator of the NF-κB ligand (RANKL), osteoprotegerin (OPG), osteocalcin (OC), bone sialoprotein (BSP), and type I collagen (COL-I), important biomarkers of bone turnover, was evaluated by qRT-PCR. Lower TGF-β and OPG mRNA levels were observed in GAP patients compared to PH individuals (p ≤ 0.05). There were no between-group differences in levels of TNF-α, BSP, RANKL, OC, or COL-I mRNA (p>0.05). In young adults, a history of periodontal disease can negatively modulate the gene expression of important bone-related factors in alveolar bone tissue. These molecular outcomes may contribute to the future development of therapeutic approaches to benefit bone healing in young patients with history of periodontitis via modulation of osteo-immuno-inflammatory biomarkers.

Humans , Male , Female , Adult , Young Adult , Aggressive Periodontitis/genetics , Gene Expression , Aggressive Periodontitis/metabolism , Reference Values , Biomarkers , Osteocalcin/analysis , Osteocalcin/genetics , Single-Blind Method , Cross-Sectional Studies , Transforming Growth Factor beta/analysis , Transforming Growth Factor beta/genetics , Tumor Necrosis Factor-alpha/analysis , Tumor Necrosis Factor-alpha/genetics , Statistics, Nonparametric , Collagen Type I/analysis , Collagen Type I/genetics , RANK Ligand/analysis , RANK Ligand/genetics , Osteoprotegerin/analysis , Osteoprotegerin/genetics , Integrin-Binding Sialoprotein/analysis , Integrin-Binding Sialoprotein/genetics , Alveolar Process/chemistry , Real-Time Polymerase Chain Reaction
Journal of Peking University(Health Sciences) ; (6): 16-23, 2020.
Article in Chinese | WPRIM | ID: wpr-942136


OBJECTIVE@#To explore the association between the abnormal root morphology and bone metabolism or root development related gene polymorphism in patients with generalized aggressive periodontitis.@*METHODS@#In the study, 179 patients with generalized aggressive periodontitis were enrolled, with an average age of (27.23±5.19) years, male / female = 67/112. The average number of teeth remaining in the mouth was (26.80±1.84). Thirteen single nucleotide polymorphisms (SNPs) of nine genes which related to bone metabolism and root development were detected by matrix assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF-MS). Root abnormalities were identified using periapical radiographs. The abnormal root morphology included cone-rooted teeth, slender-root teeth, short-rooted teeth, curved-rooted teeth, syncretic-rooted molars, and molar root abnormalities. The number of teeth and incidence of abnormal root morphology in different genotypes of 13 SNPs were analyzed.@*RESULTS@#The constituent ratio of root with root abnormality in GAgP patients was 14.49%(695/4 798). The average number of teeth with abnormal root morphology in GAgP was (3.88±3.84). The average number of teeth with abnormal root morphology in CC, CT and TT genotypes in vitamin D receptor (VDR) rs2228570 was (4.66±4.10), (3.71±3.93) and (2.68±2.68). There was significant difference between TT genotype and CC genotype (t = 2.62, P =0.01). The average number of root morphological abnormalities in CC, CT and TT genotypes of Calcitotin Receptor (CTR) gene rs2283002 was (5.02±3.70), (3.43±3.95), and (3.05±3.12). The incidence of root morphological abnormalities in CC genotype was higher than that in the patients with CT and TT, and the difference was statistically significant(87.86% vs. 65.26% & 63.64%, P=0.006, adjusted OR =3.71, 95%CI: 1.45-9.50). There was no significant difference in the incidence of abnormal root morphology between CT and TT genotypes.@*CONCLUSION@#VDR rs2228570 and CTR rs2283002 may be associated with the occurrence of abnormal root morphology in patients with generalized aggressive periodontitis, which is worthy of further research.

Adult , Female , Humans , Male , Young Adult , Aggressive Periodontitis/genetics , Case-Control Studies , Gene Frequency , Genetic Predisposition to Disease , Genotype , Polymorphism, Single Nucleotide , Receptors, Calcitriol/genetics
Braz. oral res. (Online) ; 31: e12, 2017. tab
Article in English | LILACS | ID: biblio-839502


Abstract Genetic variations observed in cytokines affect periodontitis susceptibility. The aim of this study was to investigate interleukin(IL)-6(-174) and IL-10(-597) gene polymorphisms in generalized aggressive periodontitis (GAgP) patients. Also, we aimed to evaluate the effects of IL-6 and IL-10 gene polymorphisms on the clinical outcomes of non-surgical periodontal therapy and cytokine levels in gingival crevicular fluid(GCF) and serum. Fifty-three patients with GAgP and 50 periodontally healthy individuals were included in this study. Clinical parameters, GCF and blood samples were collected at baseline and at 6-week. Non-surgical periodontal therapy was performed in patients with GAgP. Gene analysis were determined by PCR-RFLP(polymerase chain reaction-restriction fragment length polymorphism) and cytokine levels were determined by enzyme-linked immunosorbent assay(ELISA).GAgP patients showed significant improvement on clinical parameters after periodontal therapy(p<0.05). In the GAgP group, IL-6 GG genotype and G allele frequency were higher than in the control group. GCF IL-6 level was also significantly lower at 6-week in the GAgP group. Higher GCF IL-10 levelswere observed in patients carrying the IL-6 GG genotype than in those carrying the GC+CC genotype at baseline. In conclusion, IL-6(-174) and IL-10(-597) gene polymorphisms were found to be associated with GAgP and genotype distribution did not affect the outcome of non-surgical periodontal therapy, while patients with IL-6(-174) GG genotype had higher levels of GCF IL-10 levels.

Humans , Male , Female , Adult , Young Adult , Aggressive Periodontitis/genetics , Interleukin-10/analysis , Interleukin-10/genetics , Interleukin-6/analysis , Interleukin-6/genetics , Polymorphism, Restriction Fragment Length , Aggressive Periodontitis/therapy , Case-Control Studies , Dental Plaque Index , Enzyme-Linked Immunosorbent Assay , Gene Frequency , Genetic Predisposition to Disease , Gingival Crevicular Fluid/chemistry , Logistic Models , Periodontal Index , Polymerase Chain Reaction , Reference Values , Time Factors
Bauru; s.n; 2017. 124 p. ilus, graf, tab.
Thesis in English | LILACS, BBO | ID: biblio-883042


Chronic periodontitis and apical periodontitis are infectious diseases characterized by the inflammatory destruction of teeth-supporting tissues. The clinical presentation of these diseases is the result of the interaction between the infecting microorganisms and the host's defense mechanisms, constituting the host/pathogen barrier. Genetic variations are associated with differential susceptibility profiles, modulating simultaneously the patterns of infection and immune response. Therefore, we investigated the association of selected genetic variations with phenotypes of resistance or susceptibility to periodontal and periapical inflammatory bone resorption, as well as with changes in the sub gingival microbial profile and host's response biomarkers. The polymorphism rs4794067 (gene TBX21) proved significantly associated with increased risk to suffer periodontitis. Polymorphic allele-carriers demonstrated increased expression of T-bet. IFN-γ expression and bacterial load proved unaltered by genotype differences. The mutation rs333 (a.k.a. CCR5Δ32, in gene CCR5) demonstrated a protective effect against chronic periodontitis. Heterozygous subjects exhibited decreased TNF-α expression. The genetic mutation was unrelated to changes in the bacterial load of putative periodontal pathogens. The polymorphisms rs2521634 (gene NPY), rs10010758 (gene TBC1D), rs6667202 (gene IL10), and rs10043775 (gene TBXO38) proved associated with significant changes in the composition of the subgingival biofilm in chronic periodontitis patients. For apical periodontitis we employed an unbiased biomarker screening strategy based in 2D diferential electrophoresis in tandem with mass spectrometry. Among the biomarkers that proved significantly modulated, we discover a substantial upregulation of HSP27 and SERPINB1. Both proteins were preferentially localized in the cytoplasm of epithelial cells in the epithelium lining the cystic cavity and the epithelial chords of epithelized granulomas. Additionally, SERPINB1 was expressed in infiltrating polymorph nuclear neutrophils. The expression of HSP27 and SERPINB1 demonstrated a negative correlation with acute inflammation biomarkers. Overall, these genes and protein biomarkers may be promissory targets to predict the risk profile for periodontal and periapical inflammatory bone resorption.(AU)

A periodontite crônica e a periodontite apical são doenças infecciosas caraterizadas pela destruição inflamatória dos tecidos de suporte dentários. O fenótipo clínico de ambas as doenças é o resultado da interação entre os microrganismos infectantes e os mecanismos de defesa do hospedeiro (barreira hospedeiro/patógeno). Ainda, variações genéticas podem conferir níveis diferenciais de susceptibilidade a tais doenças, teoricamente modulando tanto os padrões de infecção como de resposta do hospedeiro. Neste contexto, investigamos a associação de variações genéticas selecionadas com fenótipos de resistência e susceptibilidade a lesões osteolíticas periodontais e periapicais, assim como possíveis associações com mudanças no perfil microbiológico sub gengival e em marcadores de resposta do hospedeiro. O polimorfismo rs4794067 (no gene TBX21) demonstrou uma associação significativa com risco aumentado de sofrer periodontite crônica. Os portadores do alelo polimórfico apresentaram uma expressão significativamente aumentada de Tbet. No entanto, a expressão de IFN-γ e a carga bacteriana mostraram-se independentes do perfil genético para rs4794067. O polimorfismo rs333 (também conhecido como CCR5Δ32, no gene CCR5) demonstrou um efeito protetor para periodontite crônica. Os pacientes heterozigotos exibiram níveis de expressão significativamente diminuídos de TNF-α, porém, os níveis bacterianos mostraram-se independentes do perfil genético para rs333. Os polimorfismos rs2521634 (no gene NPY), rs10010758 (no gene TBC1D), rs6667202 (no gene IL10) e rs10043775 (no gene TBXO38) demostraram uma associação significativa com mudanças no perfil microbiológico sub gengival em pacientes com periodontite crônica. No caso da periodontite apical, escolhemos uma metodologia de seleção de marcadores baseada no uso consecutivo de eletroforeses diferencial bidimensional e espectrometria de massa. Dentre os marcadores que apresentaram uma modulação significativa, as lesões de periodontite apical demostraram uma supraregulação de HSP27 e SERPINB1. Ambas as proteínas foram preferencialmente imunomarcadas nas ilhas epiteliais dentro das lesões. A expressão de HSP27 e SERPINB1 apresentou uma correlação negativa com os marcadores de inflamação aguda. Assim sendo, estes genes e biomarcadores proteicos mostram-se como alvos promissórios para a determinação do perfil de risco de lesões osteolíticas periodontais e periapicais.(AU)

Humans , Aggressive Periodontitis/genetics , Osteolysis/genetics , Periapical Periodontitis/genetics , Polymorphism, Genetic , Genetic Association Studies , Genetic Markers , Genetic Predisposition to Disease , Genotype , Risk Factors
Braz. oral res. (Online) ; 30(1): e105, 2016. tab, graf
Article in English | LILACS | ID: biblio-952031


Abstract The objective of this study was to investigate the association between single nucleotide polymorphisms (SNPs) in the IL10, NOS2A, and ESR2 genes and chronic periodontitis (CP) and aggressive periodontitis (AgP). Three groups of patients underwent periodontal and radiographic evaluations: CP (n = 61), AgP (n = 50), and periodontally healthy (control group=61). Genomic DNA was extracted from oral epithelial cells and used for genotyping by real-time polymerase chain reaction using TaqMan® probes. The investigated SNPs were: -1087G > A, -819C > T and -592C > A in the IL10; +2087G > A in the NOS2A, and +1730G > A in the ESR2 gene. Differences in genotype and allele frequencies of each polymorphism and some individual characteristics were analyzed using the chi-square test and multivariate logistic regression analysis. Analysis of SNPs and haplotypes in the IL10 and SNP in the ESR2 gene did not present any significant association with AgP or CP. The +2087G allele of the NOS2A gene tended to be significantly associated with periodontal disease. Patients carrying the genotype +2087GG in the NOS2A gene were genetically protected against the development of CP (p = 0.05; OR = 0.44; 95%CI = 0.20-0.95). This result showed greater significance when patients with AgP and CP were combined (total PD) (p = 0.03; OR = 0.46; 95%CI = 0.23-0.92). In conclusion, the studied Brazilian population had a significantly higher frequency of the GG genotype for the +2087 SNP in the NOS2A gene in individuals without periodontitis, although statistical significance was not maintained after multiple logistic regression.

Humans , Male , Female , Adolescent , Adult , Middle Aged , Young Adult , Aggressive Periodontitis/genetics , Interleukin-10/genetics , Polymorphism, Single Nucleotide , Estrogen Receptor beta/genetics , Nitric Oxide Synthase Type II/genetics , Chronic Periodontitis/genetics , Pedigree , Aggressive Periodontitis/ethnology , Brazil , Case-Control Studies , Logistic Models , Cross-Sectional Studies , Chronic Periodontitis/ethnology , Real-Time Polymerase Chain Reaction , Gene Frequency , Genotype , Middle Aged
Braz. oral res. (Online) ; 30(1): e26, 2016. tab
Article in English | LILACS | ID: biblio-951960


Abstract Interleukin 17(IL-17) is a pro-inflammatory cytokine produced mainly by Th17 cells. The present study was undertaken to investigate a possible association between IL-17 A genetic polymorphism at (-197A/G) and susceptibility to chronic and localized aggressive periodontitis (LAgP) in an Indian population. The study was carried out on 105 subjects, which included 35 LAgP patients, 35 chronic periodontitis patients and 35 healthy controls. Blood samples were drawn from the subjects and analyzed for IL-17 genetic polymorphism at (-197A/G), by using the polymerase chain reaction-restriction fragment length polymorphism method. A statistically significant difference was seen in the genotype distribution among chronic periodontitis patients, LAgP patients and healthy subjects. There was a significant difference in the distribution of alleles among chronic periodontitis patients, LAgP patients and healthy subjects. The odds ratio for A allele versus G allele was 5.1 between chronic periodontitis patients and healthy controls, and 5.1 between LAgp patients and healthy controls. Our study concluded that IL-17 A gene polymorphism at (-197A/G) is linked to chronic periodontitis and LAgP in Indian population. The presence of allele A in the IL-17 gene polymorphism (-197A/G) can be considered a risk factor for chronic periodontitis and LAgP.

Humans , Male , Female , Adolescent , Adult , Young Adult , Aggressive Periodontitis/genetics , Polymorphism, Restriction Fragment Length , Interleukin-17/genetics , Chronic Periodontitis/genetics , Polymerase Chain Reaction , Epidemiologic Methods , Genetic Association Studies , Gene Frequency , India , Middle Aged
JPAD-Journal of Pakistan Association of Dermatologists. 2014; 24 (1): 93-95
in English | IMEMR | ID: emr-157650


Papillon-Lefevre syndrome is a rare autosomal recessive genodermatosis which is characterised by periodontitis, palmoplantar keratoderma and predisposition to pyogenic infections and occurs due to cathepsin C gene mutation [located on chromosome11].The loss of primary teeth usually occurs by the age of 4 years and secondary teeth by second decade. The disorder is associated with significant cosmetic and functional disability

Humans , Male , Keratoderma, Palmoplantar , Tooth, Deciduous/pathology , Mutation , Cathepsin C/genetics , Aggressive Periodontitis/genetics , Siblings , Review Literature as Topic
J. appl. oral sci ; 21(5): 430-436, Sep-Oct/2013. tab, graf
Article in English | LILACS, BBO | ID: lil-690081


OBJECTIVE: The purpose of this study was to examine the leukotoxin promoter types of Aggregatibacter actinomycetemcomitans clones in subjects with generalized aggressive periodontitis (GAgP) and in their family members (FM). MATERIAL AND METHODS: Thirty-five patients with GAgP (33.9±7.1 years), 33 of their FM (22.8±11.4 years), and 41 patients with chronic periodontitis (CP) (44.1±9.4 years) were clinically analyzed using the plaque index, gingival index, probing depth (PD), and clinical attachment level (CAL). Subgingival biofilm samples were collected from four interproximal periodontal sites (>PD and >CAL) of each patient. The presence of A. actinomycetemcomitans and its leukotoxic clone was confirmed by polymerase chain reaction (PCR). RESULTS: A. actinomycetemcomitans was observed in 23 (51.1%) GAgP patients and 16 (30.1%) CP patients. Thirty-seven (94.8%) patients showed minimally leukotoxic strains and 2 (5.1%) showed highly leukotoxic strains. In the FM group, 10 (30.3%) had aggressive periodontitis (AgP), 12 (36.3%) had CP, 11 (33.3%) were periodontally healthy or had gingivitis, and 12.2% were A. actinomycetemcomitans positive. Greater full mouth PD and CAL were observed in GAgP patients positive for the bacteria than those negative for it (p<;0.05), and the presence of A. actinomycetemcomitans positively correlated with GAgP (Odds ratio, 3.1; confidence interval, 1.4-7.0; p=0.009). CONCLUSIONS: The presence of A. actinomycetemcomitans was associated with the clinical condition of GAgP, with most patients exhibiting a generalized form of the disease and minimally leukotoxic clones. Most of the relatives of GAgP patients presented either CP or AgP. .

Humans , Male , Female , Adult , Aggregatibacter actinomycetemcomitans/isolation & purification , Aggressive Periodontitis/microbiology , Exotoxins/isolation & purification , Family , Aggregatibacter actinomycetemcomitans/pathogenicity , Aggressive Periodontitis/genetics , Dental Plaque Index , Gingivitis/microbiology , Periodontal Index , Polymerase Chain Reaction , Statistics, Nonparametric
Indian J Hum Genet ; 2013 Jan; 19(1): 58-64
Article in English | IMSEAR | ID: sea-147637


BACKGROUND: Complex network of pro and anti-inflammatory cytokines are known to act in inflamed periodontal tissue. This study explores the distribution of interleukin (IL)-4 (+33 C/T) and IL-17F (7383A/G, 7488A/G) gene polymorphism in chronic and aggressive periodontitis subjects of Dravidian ethnicity. MATERIALS AND METHODS: This case control study consisted of 124 periodontitis individuals comprising of 63 chronic and 61 aggressive periodontitis subjects as cases, and control group consisted of 101 healthy subjects. All subjects were genotyped for IL-4 + 33C/T, IL-17F 7383A/G, 7488A/G by polymerase chain reaction amplification followed by TaqMan assay for IL-4 + 33C/T, restriction enzyme digestion and gel electrophoresis for IL-17F 7383A/G and sequencing for IL-17F 7488A/G. RESULTS: IL-4 + 33C/T was significantly associated with periodontitis (P < 0.05) at both allelic and genotypic level. In subgroup analysis also significant difference (P < 0.05) in allelic distribution between aggressive periodontitis and control group for loci IL-4 + 33C/T was noted. However, there was a lack of association between IL-17F 7383A/G and IL-17F 7488A/G with periodontitis and its sub-groups at both allelic and genotypic levels. CONCLUSIONS: In Malayalam speaking Dravidian population IL-4 + 33C/T loci appears to be an important risk factor for periodontal disease with a leaning towards aggressive periodontitis. The association between IL-17F at 7383A/G and 7488A/G loci with either chronic or an aggressive periodontitis could not be ascertained.

Adolescent , Adult , Aggressive Periodontitis/epidemiology , Aggressive Periodontitis/ethnology , Aggressive Periodontitis/genetics , Cytokines , Ethnicity , Female , Humans , India/epidemiology , India/ethnology , Interleukin-4/genetics , Interleukin-7/genetics , Male , Middle Aged , Polymorphism, Genetic , Young Adult
Indian J Hum Genet ; 2012 May; 18(2): 259-262
Article in English | IMSEAR | ID: sea-143285


Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefting. Even though literature has documented the association of various genetic disorders with aggressive periodontitis, the periodontal manifestations in patients with EEC syndrome have never been addressed. This case report presents the periodontal status of three patients in a family with EEC syndrome. The presence of generalized aggressive periodontitis was noticed in these patients. EEC syndrome could be a new addition to the group of genetic disorders associated with aggressive periodontitis.

Aggressive Periodontitis/epidemiology , Aggressive Periodontitis/genetics , Ectodermal Dysplasia/epidemiology , Ectodermal Dysplasia/genetics , Female , Foot Deformities, Congenital/epidemiology , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/epidemiology , Hand Deformities, Congenital/genetics , Humans , Young Adult
Braz. dent. j ; 22(1): 68-73, 2011. ilus, tab
Article in English | LILACS | ID: lil-582405


The genetic power of a Brazilian three-generation family with generalized aggressive periodontitis (GAgP) has been reported. The empirical logarithms of the odds (LOD) score thresholds for genetic linkage analysis of complex diseases proposed by Haines rely on confirmation from independent datasets. This study estimated the power of another large Brazilian family with GAgP for future linkage analysis. The three-generation family was seen at the Dental School of the Federal University of Bahia. Following the previously described methodology, full-mouth periodontal probing at 6 sites/tooth was performed in all 19 family members. Six out of 12 siblings were affected with GAgP. All affected family members were non-smokers and did not present diabetes or any other systemic condition or consanguinity. A parametric simulation (?=0) was performed on 100 replicates using the statistical software SLINK for linkage analysis. There was maximum expected LOD scores of 3.75 and 3.45 at penetrance rate F=0.98, and both studied phenocopy rates P=0.0 and P=0.02, respectively. The power of the study increased with the increase of the adopted penetrance rates in both studied phenocopy rates. The studied Brazilian three-generation family showed statistical power for future genetic linkage analysis of candidate genes to GAgP.

O poder genético em uma família brasileira de três gerações com periodontite agressiva generalizada (PAgG) foi reportado. Os valores dos escores logarítmicos (LOD) empíricos para análise genética de ligação de doenças complexas propostos por Haines se baseam na confirmação em conjuntos de dados independentes. O objetivo deste estudo foi de estimar o poder de uma nova grande família com PAgG para futura análise de ligação. A família de três gerações foi vista na Faculdade de Odontologia da Universidade Federal da Bahia. De acordo com metodologia previamente descrita, sondagem periodontal em 6 sítios/dente foi realizada em todos 19 membros da família. Seis de 12 irmãos apresentaram PAgG. Todos os membros afetados da família eram não fumantes, não apresentaram diabetes ou qualquer condição sistêmica ou consangüinidade. Uma simulação paramétrica (?=0) foi realizada em 100 réplicas usando software estatístico SLINK para análise de ligação. Houve escore LOD esperado máximo de 3,75 e 3,45 no valor de penetrância F=0,98 em ambas razões de fenocópia estudadas P=0,0 e P=0,02, respectivamente. O poder do estudo aumento com o aumento do grau de penetrância adotado em ambas razões fenotípicas estudadas. A família brasileira de três gerações estudada mostrou poder estatístico para futura análise de ligação genética de genes candidatos para PAgG.

Adolescent , Adult , Aged , Child , Female , Humans , Male , Middle Aged , Young Adult , Aggressive Periodontitis/genetics , Genetic Predisposition to Disease , Genetic Association Studies/methods , Lod Score , Brazil , White People/genetics , Family Health , Genes, Dominant , Indians, South American/genetics , Models, Genetic , Pedigree , Penetrance , Research Design
Rev. odontol. UNESP (Online) ; 39(6): 323-331, nov.-dez. 2010. ilus, tab
Article in Portuguese | LILACS, BBO | ID: biblio-874520


O presente estudo relata achados clínicos, genéticos e microbiológicos de indivíduos de uma família com periodontite agressiva (PA) residente em Maceió - AL, Brasil. Quatorze membros da família foram submetidos a exames clínicos periodontais, coleta de células da mucosa oral para extração de DNA e coleta de fluido subgengival para detecção de cinco espécies de periodontopatógenos por meio da PCR (Reação em Cadeia da Polimerase). Polimorfismos nos genes Interleucina 4 e 10 (IL4 e IL10) foram investigados em cada indivíduo por meio da PCR-RFLP (Polimorfismo por Comprimento de Fragmento de Restrição). Seis membros da família apresentaram PA generalizada e oito foram considerados não afetados pela PA. Não houve associação de alelos, genótipos e haplótipos nos genes IL10 e IL4 com a presença de PA na família estudada. Treponema denticola (T.d.) foi o patógeno prevalente, seguido por Tannerella forsythia (T.f.). Houve correlação dos parâmetros clínicos investigados (perda de inserção clínica, sangramento à sondagem e profundidade de sondagem) com a presença de T.d., enquanto que para T.f. houve associação deste com o sangramento à sondagem. Conclui-se que, apesar de os polimorfismos investigados não terem relação com a suscetibilidade à PA, a presença de periodontopatógenos está associada a piores índices clínicos periodontais.

The present study reports clinical, microbiological and genetic findings in members of a family with Aggressive Periodontitis (AgP) from Maceió - AL, Brazil. After periodontal exams in fourteen members of the family, DNA was obtained from epithelial buccal cells and microbiological samples were collected from subgingival plaque to detect five species of periodontopathogens by Polymerase Chain Reaction (PCR). PCR-RFLP (Restriction Fragment Length Polymorphism) was used to investigate human polymorphisms in interleukin genes (IL4, IL10). Six members of the family showed Generalized AgP and eight were considered unaffected by the AgP. There was no association of alleles, genotypes and haplotypes in the IL10 and IL4 genes with the AgP in the studied family. Treponema denticola (T.d.) was the prevalent pathogen, followed by the Tannerella forsythia (T.f.). There was correlation between clinical findings (clinical attachment loss, bleeding on probing and probing depth) with the presence of T.d., while T.f. was correlated with bleeding on probing. In conclusion, although the investigated polimorphisms were not associated with the susceptibility to AgP, the presence of periodontopathogens is related to worse periodontal clinical parameters.

Humans , Aggressive Periodontitis , Aggressive Periodontitis/genetics , Aggressive Periodontitis/microbiology , Statistics, Nonparametric , Cytokines
Braz. dent. j ; 21(2): 137-141, 2010. ilus, tab
Article in English | LILACS | ID: lil-551934


Aggressive periodontitis is a multifactorial disease with strong familial aggregation. Genetic linkage analysis is a method to localize causative or predisposing genes along the chromosome, thus helping to unravel important pathogenic pathways. Prior to applying this method, however, it is essential to estimate the power of the study design. The aim of this study was to estimate the power of a large Brazilian family with generalized aggressive periodontitis (GAgP) for future linkage analysis. A three-generation family was seen at the Dental School of the Federal University of Bahia. A full-mouth periodontal probing at 6 sites/tooth was performed in all 23 family members. Five out of 10 siblings were affected with GAgP. A parametric simulation (? = 0) was performed on 100 replicates using the statistical software SLINK for linkage analysis. The linkage LOD score criteria for complex diseases described by Haines was adopted. There was maximum expected LOD scores of 3.56 and 3.48 at penetrance rate F = 0.98, and both studied phenocopy rates p=0.0 and p=0.02, respectively. The analyzed family showed statistical power for future genetic linkage analysis of candidate genes to GAgP.

Periodontite agressiva é uma doença multifatorial que apresenta forte agregação familiar. Análise de ligação genética é um método que localiza genes que causem ou predisponham doenças ao longo do cromossomo e pode ser útil na descoberta de importantes mecanismos patogênicos. No entanto, antes de se realizar uma análise genética de ligação, é essencial estimar o poder do estudo delineado. O objetivo deste estudo foi estimar o poder de uma grande família apresentando periodontite agressiva generalizada para futura análise genética de ligação. Uma família de três gerações (23 membros) que procurou por tratamento periodontal na Faculdade de Odontologia da Universidade Federal da Bahia foi analisada. Em todos os membros familiares foi realizado um exame periodontal completo em seis sítios/dente em todas as unidades dentais presentes por um único examinador. Dos dez irmãos, cinco apresentaram a periodontite agressiva generalizada de acordo com o sistema de classificação da Academia Americana de Periodontia 1999. Uma simulação paramétrica (? = 0) foi realizada em 100 repetições com o uso do software SLINK para ligação genética. O escore logarítmico LOD descrito como critério para doenças complexas (poligênicas ou multifatoriais) por Haines foi adotado. Em nosso estudo foi encontrado um LOD esperado máximo de 3,56 e 3,48 na razão de penetrância F=0,98 nas duas razões de fenocópia estudadas p=0,0 e p =0,02, respectivamente. A família analisada mostrou ter poder estatístico suficiente para futura análise de ligação genética de genes candidatos para periodontite agressiva generalizada.

Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , Aggressive Periodontitis/genetics , Genetic Linkage , Genetic Association Studies/methods , Lod Score , Patient Selection , Family Health , Genetic Variation , Models, Genetic , Penetrance , Young Adult
Periodontia ; 19(2): 32-37, 2009. ilus
Article in Portuguese | LILACS, BBO | ID: lil-576684


A Periodontite Agressiva acomete normalmente pacientes jovens, mas também adultos, tendo uma forte característica genética e microbiológica. O objetivo do presente estudo foi esclarecer a influência destes fatores na susceptibilidade do indivíduo a esta doença e se as características da doença propostas pela Academia Americana de Periodontologia em 1999 podem ser aplicáveis às diversas populações. Concluiu-se que o fator microbiológico é indiscutível na etiologia da Periodontite Agressiva, mas a susceptibilidade do hospedeiro e as respostas do organismo a esta doença variam nas diferentes populações.

Aggressive Periodontitis is more common in young patients and bears strong genetic and microbiologic features. The purpose of the present study was to search the existing data for what has been identified as factors for increased disease susceptibility, and whether the diagnostic criteria proposed by the American Academy of Periodontology in 1999 can be accepted throughout the world. The conclusions were that the microbiologic factors for Aggressive Periodontitis are certain, but the reasons for differences in populations’ susceptibility or immune response to the disease are still unclear.

Aggressive Periodontitis/genetics , Aggressive Periodontitis/microbiology
Rio de Janeiro; s.n; 2009. 105 p. ilus, tab.
Thesis in Portuguese | LILACS, BBO | ID: lil-553182


Um estudo sugere que o fenótipo da periodontite agressiva localizada está ligado a região 1q25. O objetivo do presente estudo foi aperfeiçoar o mapeamento genético da periodontite agressiva na região cromossômica supracitada em famílias clinicamente bem caracterizadas segregando a doença. A hipótese deste estudo é que variações genéticas localizadas no cromossomo 1 entre as regiões 1q 24.2 e 1q 31.3 contribuem para o fenótipo da periodontite agressiva. Como objetivos específicos, determinamos o modo de herança da periodontite agressiva através de análise de segregação, e verificamos a existência de ligação e/ou associação entre a região 1q 24.2-1q 31.3 e a periodontite agressiva. A análise de segregação foi executada no programa SEGREG do pacote SAGE versão 5.4.2 com base nos dados dos pedigrees das primeiras 74 famílias recrutadas neste estudo, totalizando 475 indivíduos (média de 6.4 indivíduos por família) de origem geográfica similar. Assumiu-se a herança Mendeliana como um locus autossômico com 2 alelos A e B, onde o alelo A estava associado ao fenótipo relevante. Cinco modos de transmissão (não homogêneo, Mendeliano homogêneo, homogêneo geral, semigeral, heterogêneo geral) foram testados assumindo que a prevalência da periodontite agressiva é de 1% sob o Equilíbrio de Hardy-Weinberg. Foram coletadas amostras de saliva de 54 das 74 famílias recrutadas, totalizando 371 amostras de saliva para a extração do DNA genômico. 21 polimorfismos de um único nucleotídeo (SNPs) foram selecionados dentro da região proposta e analisados por reação em cadeia da polimerase (PCR). Os genótipos foram obtidos pelo método TaqMan. A análise não paramétrica de ligação familial foi executada com o Programa Merlin. As detecções de transmissão (associação) foram executadas com os programas FBAT e PLINK. O modo de herança mais adequado para cada teste de susceptibilidade dos alelos executado foi o modelo semigeral (p=0,31)...

It has been suggested that the localized aggressive periodontitis phenotype is linked to the region 1q25. The aim of this study was to fine map the chromosome interval suggested as containing a localized aggressive periodontitis locus in clinically well characterized group of families segregating aggressive periodontitis. The hypothesis of this study is that genetic variation located between 1q24.2 to 1q31.3 contributes to the phenotype of aggressive periodontitis. As specific aims, we evaluated the inheritance mode of aggressive periodontitis performing segregation analysis and, we tested the presence of linkage and or association between the target region of chromosome 1 and aggressive periodontitis. Segregation analysis was performed in pedigree data from the first 74 families, comprised of 475 individuals (average of 6.4 individuals per family) with similar geographic origin by the use of the SEGREG program of SAGE v.5.4.2. Mendelian inheritance was assumed to be through an autosomal locus with two alleles A and B, where the A allele was associated with the relevant phenotype. Five inheritance modes (homogeneous no transmission, homogeneous Mendelian transmission, homogeneous general transmission, semi-general transmission, heterogeneous general transmission) were tested assuming the prevalence of aggressive periodontitis as 1% and no deviations from Hardy-Weinberg equilibrium. Saliva samples were collected from 54 families, 371 individuals and DNA was extracted from this biological material. Twenty-one single nucleotide polymorphisms (SNPs) were selected and analyzed by standard polymerase chain reaction. The genotypes were obtained by the TaqMan method. The non-parametric analysis of familial linkage was performed with Merlin software. Analyses of transmission detection (association) were performed by FBAT and PLINK programs. The most parsimonious mode of inheritance in each susceptibility type tested was the semi-general transmission mode (p=0,31)...

Humans , Chromosome Segregation , Aggressive Periodontitis/genetics , Polymorphism, Genetic/genetics , Chromosome Mapping , Linkage Disequilibrium/genetics , Genetic Association Studies/methods , Multifactorial Inheritance/genetics
Braz. oral res ; 22(4): 322-327, 2008. graf, tab
Article in English | LILACS | ID: lil-502186


This study evaluated the frequency of the tumor necrosis factor-alpha (TNF-α) -308 G/A polymorphism in Brazilians with periodontal health (PH = 51), chronic periodontitis (CP = 74) and generalized aggressive periodontitis (GAgP = 38). Human DNA was obtained from mouthwash samples and TNF-α genotyping was performed by PCR and RFLP analyses. Differences in clinical and genetic parameters among groups were sought by Kruskal-Wallis, χ² and Fisher's exact tests. The allele -308G was detected in 91.7 percent, whereas the allele -308A was found in 35.4 percent of all subjects. No significant differences were observed in the frequency of these alleles (χ² = 2.610, p > 0.05) and the genotypes G/G, G/A, and A/A (χ² = 2.547, p = 0.636) among groups. The data suggest that the TNF-α -308 G/A polymorphism is not associated with periodontitis in this Brazilian population.

Adolescent , Female , Humans , Male , Young Adult , Polymorphism, Genetic , Periodontal Diseases/genetics , Tumor Necrosis Factor-alpha/genetics , Alleles , Aggressive Periodontitis/genetics , Brazil , Case-Control Studies , Chronic Periodontitis/genetics , Genetic Markers , Genetic Predisposition to Disease , Genotype , Oral Health , Polymerase Chain Reaction , Periodontal Diseases/diagnosis , Statistics, Nonparametric , Young Adult
Al-Azhar Journal of Dental Science. 2004; 7 (2): 123-131
in English | IMEMR | ID: emr-144634


Prepubertal peripdontitis is a rapidly prognessive form of early onset periodontitis leading to destruction of the periodontal support of the primary and secondary dentition. The aim of this study is to determine the basics for genetic mapping of six Egyptian cases suffering from prepubertal periodontitis and its variants. After completion of clinical assessment, cytogenetic study was performed for all cases including chromosomal analysis and plain X-ray for their hands. The gentic study revealed arachnodactyly of their hands, However no radiographic deformity of their fingers was detected. The cytogenetic study for all patients did not show any abnormality. This study might have important implications on oral public health, and in diagnosis and treatment of periodontitis

Humans , Aggressive Periodontitis/genetics , Cytogenetic Analysis , Chromosome Aberrations , Keratoderma, Palmoplantar , Dental Plaque Index , Periodontal Index , Radiography, Panoramic
Alexandria Dental Journal. 1984; 9 (1): 9-23
in English | IMEMR | ID: emr-170472


This work was done to study dermatoglyphic features in fifty juvenile periodontitis subjects as comparised to other control group of fifty of non juvenile periodontitis subjects, 42 females and 8 males, ranging in age 18 to 24 years. The results of this study showed that: 1 - Significant increase in the frequency of whorls on the thumb of juvenile periodontitis subjects. 2 - Significant increase in total finger ridge count of juvenile periodontitis subjects. 3 - Increased percent of Simian crease of juvenile periodontitis subjects. 4 - Palmer patterns and axial triradius of juvenile periodontitis subjects were within normal range. Therefore, analysis of the finger prints is a useful adjunct to the diagnosis of juvenile periodontitis and it may help to screen out patients who are liable to develop the disease

Humans , Male , Female , Aggressive Periodontitis/genetics