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Background: Susceptibility to aggressive periodontitis (AgP) is influenced by genetic as well as environmental factors. Studies linking gene variants to AgP have been mainly centred in developed countries with limited data from Africa., Aim: To investigate whether previously reported candidate gene associations with AgP could be replicated in a population from Sudan., Methods: The investigation was a case-control design. Cases with AgP (n = 132) and controls (n = 136) were identified from patients attending the Periodontal Department in Khartoum Dental Hospital. Genotyping was performed using the Sequenom MassARRAY iPLEX platform. Analysis focused on gene variants with a minor allele frequency (MAF) > 25% in the Sudanese subjects that had previously been reported to be associated with AgP., Results: One candidate gene rs1537415 (GLT6D1) was significantly associated with AgP, OR = 1.50 (95% CI 1.04-2.17), p = 0.0295 (increasing to p = 0.09 after correction for multiple testing). The association strengthened to OR = 1.56 (95% CI 1.15-2.16), p = 0.0042 when the controls were supplemented with data from the Hap map for the Yoruba in Ibadan (n = 147) and remained significant (p = 0.013) after correction for multiple testing., Conclusion: The study independently replicated the finding that rs1537415, a variant in glycosyl transferase gene GLT6D1, is associated with AgP and provided the first report of genetic associations with AgP in a Sudanese population., (© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Aim: Identification of variants within genes SLC23A1 and SLC23A2 coding for vitamin C transporter proteins associated with aggressive (AgP) and chronic periodontitis (CP)., Material and Methods: Employment of three independent case-control samples of AgP (I. 283 cases, 979 controls; II. 417 cases, 1912 controls; III. 164 cases, 357 controls) and one sample of CP (1359 cases, 1296 controls)., Results: Stage 1: Among the tested single-nucleotide polymorphisms (SNPs), the rare allele (RA) of rs6596473 in SLC23A1 showed nominal significant association with AgP (p = 0.026, odds ratio [OR] 1.26, and a highly similar minor allele frequency between different control panels. Stage 2: rs6596473 showed no significant association with AgP in the replication with the German and Dutch case-control samples. After pooling the German AgP populations (674 cases, 2891 controls) to significantly increase the statistical power (SP = 0.81), rs6596473 RA showed significant association with AgP prior to and upon adjustment with the covariates smoking and gender with padj  = 0.005, OR = 1.35. Stage 3: RA of rs6596473 showed no significant association with severe CP., Conclusion: SNP rs6596473 of SLC23A1 is suggested to be associated with AgP. These results add to previous reports that vitamin C plays a role in the pathogenesis of periodontitis., (© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Objective: To evaluate the status of residual alveolar bone in aggressive periodontitis (AgP) nuclear families and to investigate the influence of teeth with root abnormity on residual alveolar bone and the heredity of root abnormity, the premolar cone-root and proportion of crown and root., Methods: Nineteen AgP probands (9 males and 10 females) at average age of 24.5 and 38 parents at average age 51.0 were included. A full set of periapical radiographs of all the subjects were taken. The residual alveolar bone of each tooth was measured by the ratio (shown as percentage) of the distance between apical and the alveolar bone crest to the whole root length. The abnormity of roots was detected on a full set of periapical radiographs. All the roots and crowns of teeth were measured. The relationship between the residual bone and the ratio was studied. The heredity grade of the premolar cone-root, proportion of crown and root, and root abnormity were computed., Results: The average residual alveolar bone of probands was less than that of their parents.In 11 families, the father's residual alveolar bone was less than that of the mother's. The average residual alveolar bone of the teeth with root abnormity was less than that of normal teeth. The average residual alveolar bone of the teeth with abnormity of roots and the normal teeth were (67.5 ± 22.2)% and (73.1 ± 18.7)% respectively, with statistical significance (P < 0.001). The heredity grade of the premolar cone-root was 40.1%, the heredity grade of proportion of crown and root was 46.8%, the heredity grade of root abnormity was 30.3%., Conclusions: The residual alveolar bone of the teeth with root abnormity was less than that of normal teeth in nuclear families. The heritability of the root abnormity, the cone-root and proportion of crown and root in our sample was 0.3-0.5, which means that genetic factors accounted for about one third to half of the efficiency for AgP.

Objective: To determine the association between the interleukin (IL)-1-polymorphism and the severity of periodontal disease prior to active periodontal therapy., Materials and Methods: Two hundred and six patients with obtained baseline x-rays were tested for IL-1-polymorphism. Relative bone loss before active periodontal treatment was measured with a Schei ruler and classified in five groups. Descriptive statistics and backward stepwise linear regression analyses were performed., Results: Forty-nine patients with moderate (mChP), 79 with severe chronic (sChP) and 78 with aggressive periodontitis (AgP) were included. Age correlated significantly with bone loss and number of teeth at baseline. Gender, smoking and IL-1-polymorphism were neither associated with bone loss nor with number of teeth prior to treatment. After adjusting for age as well as gender, AgP was significantly associated with more severe bone loss in untreated periodontal disease (p = 0.036). In non-smokers, mean number of teeth prior to active periodontal therapy correlated significantly with presence of IL-1 polymorphism., Conclusion: The IL-1-polymorphism is associated with lower number of teeth in non-smokers with untreated periodontal disease. Untreated AgP is associated with more severe bone loss than untreated ChP.

Background: Early-onset periodontal diseases (EOP) are caused by interactions between host factors, specific microbial pathogens, and environmental factors. It is, therefore, of interest to investigate the nature of host factors as they may provide useful risk markers and reveal important information regarding the disease pathogenesis. Genetic polymorphisms in the vitamin D receptor (VDR) gene are associated with parameters of bone homeostasis and with diseases in which bone loss is a cardinal sign, in particular osteoporosis. Rapidly progressive bone loss is one feature of EOP. We, therefore, sought to determine whether EOP is associated with a polymorphism in the VDR gene., Methods: A restriction fragment length polymorphism (RFLP) for Taq I in exon nine of the VDR gene was analyzed by PCR, followed by restriction digestion with Taq I and gel electrophoresis. We analyzed the genotypes of 69 EOP patients, including 20 patients with unequivocal evidence of localized disease (L-EOP), and 72 controls with no history of EOP., Results: The genotype distribution in the L-EOP patient group was 7 (35%), 5 (25%) and 8 (40%) and in the control group 31 (43.1%), 36 (50.0%) and 5 (6.9%) for TT, Tt and tt respectively (where t and T represent the alleles with and without the Taq I RFLP respectively). Chi2 analysis indicated that the distribution of the genotypes between these two groups was highly significantly different (P = 0.001). Allele frequencies were 47.5% and 52.5% for T and t in the L-EOP group; 68.1% and 31.9% in the control group, showing a significant association between the prevalence of the less frequent allele (t) and L-EOP (P = 0.017). There was no significant difference in the genotype distribution or the allele frequencies between the control samples and the larger EOP patient group (n = 69) which included patients with generalized and localized disease., Conclusions: These data indicate that carriage of the less frequent allele of the Taq I RFLP (t) in the VDR gene significantly increases the risk of developing L-EOP. However, VDR genotype may not affect the incidence of all cases of EOP. These findings contribute to our understanding of the genetic basis for periodontal disease and may help define sub-groups of this disease which share common pathogenic factors.

This study presents the clinical findings and the distribution of prepubertal periodontitis in an extended family with high prevalence of this entity. The expression of surface markers and adhesion molecules on peripheral lymphocytes were also studied. Approximately 50% of the children in this family suffered from prepubertal periodontitis. All the affected children were otherwise healthy. 2 identical twins were similarly, but not identically, affected. Detailed laboratory tests and analysis of lymphocyte surface marker expression, including CD18, were all within the normal levels. Both localized and generalized forms of prepubertal periodontitis were found. The high prevalence of prepubertal periodontitis in the 2 branches of this family, and the fact that identical twins were similarly affected, suggest a strong genetic predisposition for prepubertal periodontitis. The family pedigree is consistent with an autosomal-dominant mode of transmission. The coexistence of localized and generalized forms of the disease in sibs suggests the same genetic etiology for both entities with variability in disease expression. This variability in disease expression is further supported by the fact that 2 identical twins were not identically affected.

Microbiological, immunological, host-defensive, and genetic analyses were performed on a mother and daughter, both of whom had early-onset periodontitis (rapidly progressive periodontitis in the mother; localized juvenile periodontitis in the daughter). Microscopic examination revealed a greatly elevated percentage of rod-form bacteria in both subjects. Fusobacterium sp. and Porphyromonas gingivalis (formerly Bacteroides gingivalis) were the predominant microorganisms cultured. The humoral immune responses to F. nucleatum, P. gingivalis, and Actinobacillus actinomycetemcomitans were much higher in both subjects than those to any other periodontal bacteria examined. Functional and phenotypic analysis of the peripheral lymphocytes showed no significant abnormalities. However, investigation of neutrophil function showed that the mother had depressed neutrophil chemotaxis and superoxide production. The daughter had depression not only of chemotaxis and superoxide production, but also of neutrophil phagocytosis. Serological typing of HLA antigens revealed the same Class II HLA profile in both subjects. It was concluded that both subjects very probably had an identical condition and that these patients provided a unique model for improving our understanding of the host factors involved in periodontal disease.