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 ; Aggressive Periodontitis/genetics* ; Case-Control Studies ; Cholesterol Ester Transfer Proteins/genetics* ; Cytochrome b Group ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; NADPH Oxidases/genetics* ; Polymorphism, Single Nucleotide ; Young Adult

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 ; Aggressive Periodontitis/genetics* ; Case-Control Studies ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Polymorphism, Single Nucleotide ; Receptors, Calcitriol/genetics* ; Young Adult

OBJECTIVETo investigate the potential genetic mode of aggressive periodontitis (AgP) in Chinese Han nationality.

METHODSA total of 233 subjects from 73 nuclear families were recruited. All probands were diagnosed according to the criteria of AgP in 1999 classification of periodontal diseases. Ninety parents, 35 siblings and three grandparents and two offspring were examined based on full-mouth periodontal chartings (including parameter of probing depths, attachment loss, bleeding on probing at six sites per tooth) and full-mouth periapical radiographs. The genetic ratio was calculated and analyzed by the methods of Edwards and simple segregation.

RESULTSThe prevalence of AgP in probands' siblings was close to the square root of the prevalence of general population. The segregation ratio was 0.2419, which was close to the theoretical ratio for autosomal recessive inheritance. However, autosomal dominant inheritance could not be rejected in families whose parent(s) suffered from severe chronic periodontitis.

CONCLUSIONSThe genetic heterogeneity of AgP existed in Chinese Han nationality. The genetic mode was autosomal recessive inheritance in general, and autosomal dominant inheritance could not be excluded in families whose parent(s) suffered from severe chronical periodontitis. The results imply the genetic heterogeneity of AgP, and further demonstrate that AgP was a multifactorial disease with major genetic component in the disease etiology.

Aggressive Periodontitis ; epidemiology ; genetics ; Asian Continental Ancestry Group ; genetics ; Chronic Periodontitis ; epidemiology ; genetics ; Female ; Genes, Dominant ; Genes, Recessive ; Genetic Heterogeneity ; Humans ; Male ; Pedigree ; Prevalence ; Surveys and Questionnaires

OBJECTIVETo investigate the relationship between tumor necrosis factor (TNF) A-308 gene polymorphism and aggressive periodontitis (AgP).

METHODSAnti-coagulated peripheral blood samples were obtained from 64 AgP patients, and 78 healthy controls (H). Genomic DNA was extracted from each sample. The TNF A-308 gene polymorphism was detected by standard polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Data were analyzed by SAS statistical software.

RESULTSThere was no significant difference in distribution of TNF A-308 genotype between AgP patients and healthy controls. But the ORs for genotype GA and allele A were 22.2 and 16.1 respectively in non-smoking male AgP patients.

CONCLUSIONSThe TNF A-308 genotype GA and allele A may be associated with AgP susceptibility in Chinese males.

Aggressive Periodontitis ; genetics ; Alleles ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Polymorphism, Genetic ; Tumor Necrosis Factor-alpha ; genetics

Aggressive Periodontitis ; genetics ; Cathepsin C ; genetics ; Child ; Humans ; Male ; Mutation ; Polymerase Chain Reaction

OBJECTIVESTo screen polymorphisms in the upstream region of S100A8 gene and to detect whether the polymorphisms were associated with aggressive periodontitis.

METHODSThirty aggressive periodontitis patients and twenty-eight healthy controls were recruited for the study with informed consent. All subjects were of Chinese descent and systemically healthy. The regions about 800 bp upstream from the ATG start codon in exon 2 of the S100A8 gene of 10 patients and 8 controls were amplified by polymerase chain reaction (PCR) and analyzed by direct sequencing. A single nucleotide polymorphism (SNP) at 94 bp upstream from the ATG start codon was selected, and then the shorter regions (about 250 bp upstream from the ATG start codon) of the rest subjects were also amplified by PCR and analyzed by direct sequencing. The frequency of the SNP and the distribution of the genotype were detected and compared between the two groups.

RESULTSA nucleotide substitution (A-->G) at 94 bp upstream from the ATG start codon was demonstrated in Chinese, which was in a cis-acting element, named gamma interferon response element (gamma-IRE) in intron 1 of S100A8 gene. All of the subjects that carried the polymorphism were heterozygous. There was no statistically significant difference in the frequency of allele 2 (corresponding to the nucleotide G) between patients and controls (11.7% vs. 17.9%, chi2 = 0.887, P > 0.05). The prevalence of the heterozygous genotype was 23.2% and 35.7% (chi2 = 1.07, P > 0.05) in patients and controls, respectively.

CONCLUSIONSThis is the first report that a nucleotide substitution of S100A8 gene was demonstrated in Chinese. The frequencies of allele 2 and heterozygous genotype were lower in patients, but there is no statistically significant difference between the aggressive periodontitis patients and healthy controls in this preliminary study.

Aggressive Periodontitis ; genetics ; Alleles ; Calgranulin A ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Male ; Periodontitis ; genetics ; Point Mutation ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; genetics ; Promoter Regions, Genetic ; genetics