肿瘤坏死因子A-308基因多态性与维吾尔族慢性牙周炎的关系

目的:探讨肿瘤坏死因子A-308(turmor necrosis factor A-308,TNFA-308)基因多态性与维吾尔族慢性牙周炎(chron ic periodontitis,CP)易感性的关系。方法:收集维吾尔族重度CP 4 l例、中度CP 43例、轻度CP 49例和同族健康对照92例个体的颊黏膜拭子,提取DNA,采用序列特异引物多聚酶链反应(sequence spec ific prim ers-polym erase chain reaction,SSP-PCR)法测定TNFA-308位点的基因型,比较各基因型检出率的差别。结果:TNFA-308位点基因型分布在重度CP、中度CP、轻度CP与健康组之间无差异。结论:TNFA-308位点基因型可能与维吾尔族CP遗传易感性无相关性。     

肿瘤坏死因子A-308位点基因多态性与成人重度牙周炎的关系

目的 探讨肿瘤坏死因子（tumor necrosis factor,TNF)A-308位点基因多态性与汉族成人重度牙周炎易感性的关系。方法 收集65例成人重度牙周炎患者和96名健康对照者的颊粘膜拭子，采用Chelex-100法提取DNA，PCR限制性内切酶片段长度多态性（PCR－RFLP）法检测基因多态性，用计算机软件统计分析患者和对照组间基因型分布的差异。结果 TNF A－308位点等位基因1和2的分布在患者和对照组间差异有高度显著性（P＜0．001），患者中“1／1”基因型明显占多数，危险分析显示等位基因“1／1”纯合子个体患重度牙周炎的几率比“1／2”、“2／2”基因型个体高3．64倍。结论 TNF A－308等位基因1／1纯合子基因型可能是重度牙周炎的易感因素。     

维生素D受体基因多态性与汉族人群慢性牙周炎易感性的关系

目的 探讨维生素D受体(VDR)基因多态性与汉族人群慢性牙周炎(CP)易感性的关系。方法 收集汉族轻、中、重度CP患者共166例及80名无牙周炎对照者的颊黏膜拭子，以Chelex-100法提取DNA，采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法测定VDR BsmI、VDR ApaI和VDR TaqI的基因型，分析组间基因型分布和等位基因频率的差异。结果 轻、中、重度CP患者中VDR ApaI等位基因A携带者明显多于对照组，重度CP与中度CP、重度CP与轻度CP患者间VDR ApaI基因型的分布差异均有统计学意义，中度CP与轻度CP患者间VDR ApaI基因型分布差异无统计学意义，而VDR BsmI、TaqI位点的基因型分布在患者组和对照组间差异无统计学意义。结论 VDR ApaI等位基因A可能与汉族人群CP的易感性有关。     

肿瘤坏死因子A-308位点基因多态性与侵袭性牙周炎的关系

目的探讨肿瘤坏死因子（tumor necrosis factor，TNF）A-308位点基因多态性与侵袭性牙周炎的关系。方法选择64例侵袭性牙周炎（aggressive periodontitis，AgP）患者及78名健康对照者，提取其外周静脉血基因组DNA，采用多聚酶链反应-限制性内切酶片段长度多态性的方法检测TNF A-308位点的基因多态性。结果TNFA-308位点的GA基因型频率在两组间差异无统计学意义；但是在按性别和吸烟分层的条件下，携带基因型GA和等位基因A使男性不吸烟者患病的风险明显增加（OR值分别为22．2和16．1）。结论提示TNFA-308基因型GA和等位基因A可能与中国人群中男性个体的AgP易感性有关。     

HLA-DRB1*1501位点基因多态性与重度慢性牙周炎易感性的相关关系研究

目的探讨HLA-Ⅱ类基因区基因多态性与重度慢性牙周炎易感性的关系.方法收集134例重度慢性牙周炎(CP)患者和81例健康对照者的颊黏膜拭子,提取DNA,采用多聚酶链反应-限制性内切酶片段长度多态性(PCR-RELP)方法,检测HLA-DRB1*150l的多态性,采用行×列表资料的x2检验,比较重度CP患者和健康对照组中等位基因频率和基因型的分布.结果DRB1*150l等位基因频率在重度CP组高于对照组(P＜0.05),0R=3.874(2.401～6.252),提示该等位基因可能与重度CP的危险性增高有关.两组之间基因型分布有统计学差异,携带HLADRB1*1501纯合子基因型个体患重度CP的危险性可能增高,0R=20.896 (4.866～89.726),P＜0.05.结论DRB1*1501等位基因可能与汉族人群重度CP遗传易感性相关,HLA-DRB1*1501纯合子基因型可能增加了重度CP的易感性.     

伴2型糖尿病慢性牙周炎患者TNF-α基因携带频率的研究

目的:通过对伴2型糖尿病慢性牙周炎患者、不伴全身系统性疾病的慢性牙周炎患者以及健康对照组中TNF-α基因携带频率的分析,探讨病例组和对照组在该基因携带频率上的差异,并比较各组牙周临床指标和易感等位基因的关系。方法:采用牙周探针,对112例伴2型糖尿病慢性牙周炎患者(DM组)、99例单纯慢性牙周炎患者(CP组)以及健康对照组进行牙周临床指标检查和TNF-α-308基因型(TNF1/2)检测。采用SPSS13.0软件包对数据进行χ2检验和方差分析。结果:在DM组和轻中度CP组之间,轻中度DM组和重度CP组之间,重度DM组和轻中度CP组之间,重度DM组和重度CP组之间,TNF2的阳性基因型分布均有统计学差异(P<0.05)。携带等位基因TNF2的DM组和CP组的牙周探诊深度、临床附着丧失均分别显著高于只携带等位基因TNF1的DM组和CP组患者(P<0.05)。结论:携带TNF-α-308等位基因TNF2可能会增加人群牙周炎的易感性,并且在2型糖尿病和牙周炎协同作用过程中具有重要作用。     

肿瘤坏死因子A-308位点基因多态性与复发性阿弗他溃疡关系的研究

目的探讨肿瘤坏死因子A-308位点(tumor necrosis factorA-308,TNFA-308)基因多态性与复发性阿弗他溃疡(recurrent aphthous ulcer,RAU)易感性的关系。方法收集46例RAU患者和50例健康对照个体的颊黏膜拭子,提取DNA,采用序列特异引物多聚酶链反应(sequence specific primers-polymerase chain reaction,SSP-PCR)法测定2组TNFA-308位点的基因型,比较各组基因型检出率的差别。结果TNFA-308位点基因型分布在RAU患者组和健康组之间无统计学差异。结论TNFA-308位点基因多态性可能与RAU的遗传易感性无相关性。     

白细胞介素1受体拮抗剂基因型与维吾尔族慢性牙周炎的关系

目的 探讨白细胞介素1受体拮抗剂(interleukin-1 receptor antagonist，IL-1ra)基因型与新疆维吾尔族慢性牙周炎(chronic periodontitis，CP)易感性的关系。方法 收集维吾尔族重度CP患者4l例、中度CP 43例、轻度CP 49例及同族健康对照92人的颊粘膜拭子，提取DNA，采用序列特异引物多聚酶链反应(sequence specific primmers-polymerase chain reaction，SSP-PCR)法测定IL-1RN内含子2／VNTR位点的基因型，比较各基因型检出率的差别。结果 IL-1RN内含子2／VNTR等位基因2在重度CP中的检出率显著高于对照组，而在中度CP与对照组、轻度CP与对照组间的分布差异无显著性。结论 IL-1 RN内含子2／VNTR等位基因2可能与新疆维吾尔族重度CP遗传易感性相关。     

肿瘤坏死因子-α启动子区基因多态性与慢性牙周炎及冠心病的相关性研究

目的：研究肿瘤坏死因子-α（TNF-α）启动子区-308、-238位点单核苷酸多态性（SNP）改变对慢性牙周炎及冠心病的影响。方法：根据慢性牙周炎及冠心病的诊断及纳入标准收集73例单纯冠心病（CHD）患者、107例慢性牙周炎（CP）患者、114例CP合并CHD患者及138名健康对照者（HC）,检查这些患者的牙周状况,取颊黏膜拭子提取其基因组DNA,采用多聚酶链反应-限制性内切酶片段长度多态性的方法检测TNF-α-308位点G〉A及-238位点G〉A的基因型分布并分析其基因多态性与慢性牙周炎及冠心病易感性的关系．结果：TNF-α-238位点G〉A基因型频率在各组间无显著性差异（P〉0．05）,-308位点G〉A的基因型分布在冠心病患者较健康对照者之间有统计学差异（P〈0．05）,携带变异基因型GA或AA的个体较野生基因型GG个体冠心病发病风险增加2．87倍（95％ CI：1．316-6．250,P=-0．008）,但是-308位点基因变异与牙周炎发病无关（P〉0．05）．结论：TNF-α启动子区-308位点单核苷酸多态性与冠心病的易感性有关,与牙周炎的发病无关。     

白细胞介素-6基因-572C/G多态性与慢性牙周炎的相关性研究

目的研究白细胞介素-6（interleuk in-6,IL-6）基因启动子区域-572C/G位点基因多态性与慢性牙周炎易感性的关系。方法采用病例对照试验设计,轻中度牙周炎组87例,重度牙周炎组72例,健康对照组90例,收集颊粘膜拭子,使用聚合酶链反应—限制性内切酶片段长度多态性基因分析的方法,检测各组IL-6-572位点基因型和等位基因分布。结果 IL-6基因-572C/G位点G等位基因的检出率在健康组是14.4%,轻中度牙周炎组是14.4%,重度牙周炎组是20.1%。等位基因频率在患者和健康者之间无统计学差异（P=0.287）。CC基因型在各组的分布分别是健康组73.3%,轻中度牙周炎组71.3%,重度牙周炎组63.9%,各组之间差异无统计学意义（P=0.308）。结论 IL-6基因-572位点多态性与汉族人群慢性牙周炎的易感性无明显相关。     

FcγRⅢB基因多态性与汉族人群慢性牙周炎关系的研究

目的探讨FcγRⅢB基因多态性与慢性牙周炎敏感性的关系。方法收集63例重度慢性牙周炎患者、103例轻中度慢性牙周炎患者及80名健康对照者的颊黏膜拭子,提取DNA,采用等位基因特异性引物PCR(PASA)法测定FcγRⅢB基因多态性,比较各组间基因型分布的差异。结果FcγRⅢB基因型分布及等位基因频率在3组间差异无显著性。结论研究未显示FcγRⅢB基因型与慢性牙周炎相关。     

Estrogen receptor-alpha gene polymorphisms in patients with periodontitis

BACKGROUND: Recent studies have shown that estrogen receptor-alpha (ER-alpha) gene polymorphisms are associated with alterations in bone mineral density and osteoporosis. It is unclear whether ER-alpha gene polymorphisms are associated with alveolar bone loss in patients with periodontitis. OBJECTIVE: The aim of this study was to investigate the relationship between ER-alpha gene polymorphisms and periodontitis. METHODS: Ninety patients with aggressive periodontitis, 34 patients with chronic periodontitis and 91 healthy controls were recruited in this study. All these subjects belonged to the Han Chinese race. DNA was extracted from peripheral blood of each subject. The ER-alpha gene was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with PvuII and XbaI restriction endonucleases. RESULTS: The detection frequency of XX genotype was significantly higher in the chronic periodontitis patients than in the healthy controls (11.8% vs. 4.4%, p < 0.05). The difference between the female chronic periodontitis patients and healthy controls (26.7% vs. 2.1%, p < 0.01) was statistically significant, but no difference was found between the male patients and controls (p > 0.05). The detection frequency of PvuII ER genotypes was not statistically different among the three groups (p > 0.05). CONCLUSIONS: In female Han Chinese population, the XX genotype may be a risk indicator for chronic periodontitis.     

No correlation of five gene polymorphisms with periodontal conditions in a Greek population

BACKGROUND: Various studies have examined possible correlations between a number of cytokine gene polymorphisms and periodontal disease in populations of different origins. The present study sought the correlation between four single-nucleotide polymorphisms (IL1A+3954, IL1B+4845, TNFA-308, COL1A1 Sp1), a variable number of tandem repeats polymorphism (IL1RN intron 2) and periodontal conditions in subjects of Greek origin. METHODS: One hundred and ninety-two healthy subjects, stratified as non-periodontitis and periodontitis (chronic and aggressive) cases, participated in the present study. Genotyping was performed by polymerase chain reaction-based techniques using the primers and conditions described in the literature. The frequencies of genotypes between study groups were compared using Genepop v3.3 genetic software and Instat statistical package. RESULTS: No differences were observed among the groups concerning the distributions of genotypes under investigation. CONCLUSIONS: Carriage rates of the polymorphisms under investigation in systemically healthy subjects of Greek origin are well within the range reported for Caucasians but these polymorphisms cannot discriminate between non-periodontitis and periodontitis (chronic or aggressive) cases.     

C-反应蛋白基因多态性与慢性牙周炎伴Ⅱ型糖尿病易感性相关研究靠

目的:初步分析CRP基因多态性与慢性牙周炎伴Ⅱ型糖尿病易感性之间的关系.方法:收集慢性牙周炎伴Ⅱ型糖尿病患者及慢性牙周炎患者的颊黏膜拭子,采用Chelex-100法提取DNA,然后应用PCR-RFLP法检测CRP的基因型分布.并与牙周健康的对照组基因型对比,统计分析慢性牙周炎及Ⅱ型糖尿病的发病是否与CRP+1059G/C的基因多态性有关.结果:慢性牙周炎伴Ⅱ型糖尿病组、慢性牙周炎组与对照组的CRP+1059基因型分布差异无显著性(χ~2=0.223,P=0.994),等位基因频率的分布差异无显著性.3 组受试者中GG基因型最多, GC型次之, CC型最少.各基因型及等位基因频率分布均符合Hardy-Weinberg平衡.结论:本研究未发现中、重度慢性牙周炎,慢性牙周炎伴Ⅱ型糖尿病的易感性与CRP+1059G/C单核苷酸多态性有关.     

Interferon-gamma and interleukin-12 gene polymorphisms and their relation to aggressive and chronic periodontitis and key periodontal pathogens

BACKGROUND: The gene polymorphisms interferon-gamma (IFN-gamma) 874 T/A and interleukin (IL)-12 1188 A/C have been associated with the altered production of cytokines. Therefore, they might be indicative of the occurrence of chronic periodontitis (CP) or aggressive periodontitis (AgP) and the prevalence of key periodontal pathogens. For this purpose, we analyzed these polymorphisms in subjects with generalized AgP or generalized CP. Moreover, we assessed the relationship between these polymorphisms and five periodontopathic bacteria. METHODS: A total of 124 unrelated German white subjects with periodontitis (AgP=72 and CP=52) and 74 periodontitis-free subjects were studied. Gene polymorphisms were determined by polymerase chain reaction with sequence-specific primers. Subgingival bacteria were molecular biologically analyzed using multiplex polymerase chain reaction and reverse hybridization. The distributions of alleles and genotypes were calculated by the chi(2) test with Yates correction. Risk factor analyses were carried out by logistic regression considering established confounders for periodontitis. RESULTS: Allele and genotype frequencies of both investigated polymorphisms were not significantly different between subjects with periodontitis and periodontitis-free controls. However, in the total study group, IL-12 AA-positive subjects had a significantly higher bleeding index than individuals who expressed IL-12 CC (68.2% versus 50.0%, P=0.025). Moreover, IFN-gamma AA carriers had a decreased odds ratio (OR) for the individual presence of Aggregatibacter actinomycetemcomitans (previously Actinobacillus actinomycetemcomitans) (OR=0.39, P=0.012) after adjustment for age, gender, smoking, and probing depth. IFN-gamma TA predisposed an individual to infection with Prevotella intermedia (OR=2.15, P=0.019). CONCLUSION: Although a relationship between the bleeding index and the presence of bacteria was shown, IFN-gamma and IL-12 polymorphisms are not suitable diagnostic features for AgP and CP.     

基质金属蛋白酶组织抑制因子-1基因多态性与慢性牙周炎相关性研究

目的:探讨基质金属蛋白酶组织抑制因子-1(TIMP-1)基因多态性与慢性牙周炎易感性的相关性.方法:从广东汉族人群中收集70例慢性牙周炎(CP)患者及74 例牙周健康对照者的颊黏膜拭子,以Chelex-100法提取DNA,采用聚合酶链反应-限制性片段长度多态方法对TIMP-1 +372T/C(rs4898)、TIMP-1 +533C/T (rs1062849)多态性进行检测, χ2检验分析组间等位基因分布和基因型频率的差异.结果:TIMP-1 +372位C、T等位基因在CP组和对照组的分布差异无统计学意义(P=0.897,OR=1.062).TIMP-1 +533C/T多态性未检出.结论:TIMP-1 +372T/C多态性与中国广东汉族人慢性牙周炎的患病易感性无关,且该人群中不存在TIMP-1 +533C/T多态性.     

Lack of association between the TNF alpha G -308 A promoter polymorphism and periodontal disease

BACKGROUND: Immunorelevant gene polymorphisms might influence the susceptibility for periodontal disease. The present study assessed the frequency of a promoter polymorphism (-308G-to-A) of the tumour necrosis factor (TNF)alpha gene in patients with periodontitis and controls. METHODS: Eighty-one patients with generalized chronic periodontitis and 80 healthy controls were genotyped for the -308 polymorphism of the TNF alpha gene by PCR amplification and subsequent restriction fragment length polymorphism analysis. The diagnosis of chronic periodontitis was made for each subject on basis of standardized clinical and radiographic criteria. RESULTS: In patients with peridontitis and controls, the frequency of the TNF alpha-308 A allele was comparable (19.1% [31/162] versus 13.8% [22/160]; p=0.193). CONCLUSION: The present study revealed no association between the -308 TNF alpha gene polymorphism and periodontal disease.     

Recurrent aphthous stomatitis and gene polymorphisms for the inflammatory markers TNF-alpha,TNF-beta and the vitamin D receptor: no association detected

OBJECTIVE: To investigate the possibility that minor recurrent aphthous stomatitis (MiRAS) is associated with the inheritance of specific gene polymorphisms for markers associated with macrophage driven inflammation, i.e. tumor necrosis factor-alpha (TNF-alpha), TNF-beta or the vitamin D receptor (VDR). SETTING: MiRAS is a common, painful, ulcerative condition of the mouth. Its etiology is unknown although mononuclear inflammatory cells are thought to play an important role. There is no clear genetic mode of inheritance, however, many patients report a positive family history and disease concordance is significantly higher in monozygotic than dizygotic twins, suggesting a polygenic mode of inheritance. METHODS: Ninety-five MiRAS patients and an ethnically matched control population were genotyped for TNFA-308, TNFB Ncol and VDR (intron 8 and exon 9) polymorphisms. Chi-square analysis was used to compare the allele frequencies and genotypes of cases and controls. RESULTS: No significant association was identified between inheritance of specific alleles or genotypes of the TNFA-308, TNFB Ncol and VDR (intron 8 and exon 9) polymorphisms and susceptibility to MiRAS. CONCLUSIONS: Inheritance of specific gene polymorphisms for TNF-alpha, TNF-beta or VDR does not appear to be a significant factor in determining susceptibility to MiRAS.