BSG基因与重度慢性牙周炎的相关性研究

目的:重度慢性牙周炎在不同人群中患病率较为稳定(10%～15%),提示遗传因素是重度慢性牙周炎重要的危险因素。探讨汉族人BSG基因多态性与重度慢性牙周炎的发生是否存在相关性。方法:纳入湖北汉族重度慢性牙周炎患者139名,130名牙周健康至轻度牙周炎患者为对照组,从BSG基因上选取2个单核苷酸多态性(single nucleotide polymorphism,SNP)位点rs4682、rs2072310,采用时间飞行质谱(MALDI-TOF-MS)技术进行检测,分析BSG基因多态性与重度慢性牙周炎的关系。结果:湖北汉族人群BSG基因rs4682、rs2072310位点存在多态性C/T、T/C,低频等位基因频率分别为0.411、0.413。χ2检验显示病例和对照组间rs4682和rs2072310等位基因分布差异无统计学意义。在隐性、显性、共显性模型中采用χ2检验显示2个SNP位点在2组间的分布差异无统计学意义。针对吸烟情况的分层分析发现吸烟者和不吸烟者2个SNP位点等位基因优势比在病例和对照组间差异无统计学意义。结论:湖北汉族人群BSG基因rs4682和rs2072310位点存在多态性,2个SNP位点与重度慢性牙周炎易感性可能无关。     

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.     

白细胞介素1基因多态性与四川地区慢性牙周炎相关关系的研究

目的检测II-I基因型在不同牙周健康状态汉族人群中的分布,分析III 1等位基因与慢性牙周炎的相关关系。方法选取汉族慢性牙周炎患者182例,检查全口临床牙周附着丧失量,牙周袋深度;同时选取牙周健康对照者89例。棉拭子刮取颊勃膜脱落细胞,用PCR-RFLI,法和PCR法检测II- 1+3953,IIr1A-889,IIr1B-511和IL- 1RN (intron2) VNTR基因型分布。结果重度慢性牙周炎患者组II, 1A-889, IL, l B十3953和ILIlB-511等位基因II以及II- I A-889和II- 1 B-511复合等位基因II , III I B + 3953和IL I B-511复合等位基因H基因频率均显著高于健康对照组 ( P < 0.05) ,II,1RN(intron2) VNTR等位基因的基因型和等位基因频率在各组间的分布无显著性差异(P > 0.05)。结论III 1基因多态性与慢性牙周炎有相关关系,ILII B + 3953,II-IA-889和ILIIB-511等位基因B以及II-IA-889和 II-1B-511复合等位基因II, IIII B + 3953和ILIlB-511复合等位基因II可能是部分慢性牙周炎患者易感性的遗传标志。同时提示II- I基因型在不同地域、不同人种中的分布是不相同的。     

人类白细胞抗原DQB1 ＊0602位点基因多态性与汉族人重度慢性牙周炎易感性关系的研究

目的探讨人类自细胞抗原（human leucocyte antigen,HLA）-11类基因区基因多态性与重度慢性牙周炎易感性的关系,为寻找汉族人群重度慢性牙周炎易感基因或抗病基因提供线索。方法选取重度慢性牙周炎患者134例,健康对照81人,取颊黏膜拭子,提取DNA,采用聚合酶链式反应-限制性内切酶片段长度多态性分析方检测HLA DQB1＊0602多态性,比较两组DQB1＊0602等位基因的频率分布。结果重度慢性牙周炎组与健康对照组HLA DQB1＊0602等位基因频率分别为0．295、0．160,差异有统计学意义（x^2=9．864,P=0．002）,相对危险度RR=1．84。结论HLA DQB1＊0602位点基因多态性与汉族人群重度慢性牙周炎遗传易感性有一定关系。     

TNFA-308基因多态性与中国人群慢性牙周炎的相关性研究

目的：探讨TNFA～308基因多态性与慢性牙周炎易感性的关系。方法：收集63例重度慢性牙周炎（CP）患者、103例轻、中度慢性牙周炎患者及80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—RFLP）法测定TNFA-308位点的基因多态性,实验结果输入SPSS10．0统计软件包处理,进行各组间基因型分布和等位基因频率的X^2检验,比较各组间基因型分布的差异。计算等位基因2的OR和95％可信区间,以确定等位基因2与牙周炎易感性的关系。结果：重度CP组、轻、中度CP组及健康对照组均以TNF1／1纯合子占优势,TNF1／2杂合子基因型次之,仅在轻、中度CP组检出1例TNF2／2纯合子基因型。TNFA-308／NcoI基因型分布及等位基因频率在3组间无显著性差异。结论：对此位点基因型是否对慢性牙周炎的易感性及进程预后产生影响。尚不能肯定,需要进一步的研究。     

C反应蛋白基因多态性与慢性牙周炎的相关性研究

目的 研究中国汉族人群中C反应蛋白(C-reactive protein,CRP)+1444C/T、CRP+1059G/C两种基因多态性与慢性牙周炎的关系,为进一步探讨CRP在牙周炎与冠状动脉粥样硬化性心脏病相关性中的作用和意义提供依据.方法 检测126例慢性牙周炎患者(CP组)和113名牙周健康或龈炎者(对照组)的牙周临床指数(附着丧失、探诊深度和探诊出血)、CRP水平及CRP+1059G/C、CRP+1444C/T基因多态性分布情况.结果 CP组中CRP+1059C等位基因的频率为6.7%(17/252);对照组4.9%(11/226),CP组与对照组之间的基因型分布和等位基因频率的分布差异均无统计学意义(0.250.5).结论 CRP+1059G/C、+1444C/T基因可能是CRP的功能性基因,尽管牙周炎与心血管疾病显著相关且CRP+1059G/C、+1444C/T与心血管疾病有相关性,但是这两个基因位点可能对中国汉族人群牙周炎患者的血清CRP水平影响不显著.     

IL-10-819位点基因多态性与汉族人群重度慢性牙周炎易感性相关性的研究

目的　探讨IL 10启动子区基因多态性与重度慢性牙周炎易感性的关系。方法　收集 14 2名重度慢性牙周炎患者和 81名健康对照者的颊粘膜拭子 ,提取DNA ,采用ASO PCR方法检测IL 10 819位点基因多态性 ,比较重度慢性牙周炎患者和健康对照组中等位基因频率和基因型分布。结果　IL 10 819C/T等位基因频率和基因型分布在患者和对照组之间差异无显著性 (OR =1.377,P =0 .12 2 >0 .0 5 )。结论　IL 10 819位点基因多态性与汉族人群重度慢性牙周炎遗传易感性无相关关系。     

C反应蛋白基因多态性与慢性牙周炎的相关性研究

Objective To investigate the relationship between C-reactive protein (CRP) + 1444C/T, CRP + 1059G/C polymorphisms and chronic periodontitis ( CP ) in a Han Chinese population. Methods Clinical periodontal parameters[ attachment loss( AL) probing depth(PD) and bleeding on probing(BOP) ] , and serum CRP levels were examined in CP patients (re = 126) and healthy subjects ( n = 113). Results The mean serum CRP level [ (1. 74 ± 1. 67) mg/L] was significantly higher in the CP group than in the control group [ (0. 57 ± 0. 39) mg/L] , P < 0. 001. In the control group, serum CRP levels were significantly lower in subjects with the CRP + 1059 GC and CC genotypes than those with the CRP +1059 GG genotype (P < 0.01). There was no significant difference between genotypes in the CP group. In CP and the control groups, serum CRP levels were significantly higher in subjects with the CRP + 1444 CT and TT genotypes compared to those with the CRP + 1444 CC genotype (P <0. 5). The percentage of CRP + 1059 C allele was 6. 7% (17/252) in the CP group and 4. 9% (11/226) in the control group. The percentage of CRP + 1444 T allele was 6. 3% (16/252) in the CP group and 5. 3% (12/226) in the control group (P > 0. 5). There was no significant difference between groups in both allele frequencies (P > 0. 5 ). The association of CRP + 1059G/C, CRP + 1444 C/T polymorphisms with CP was not found in a regression model ( P > 0. 5). Conclusions The presence of a CRP + 1059C-allele was associated with lower serum CRP levels and the presence of a CRP + 1444T-allele was associated with higher serum CRP levels. However, the data suggested that CRP + 1059G/C, CRP + 1444 C/T polymorphisms were not significantly associated with serum CRP levels of chronic periodontitis patients in ethnic Han Chinese.     

C反应蛋白基因多态性与慢性牙周炎的相关性研究

Objective To investigate the relationship between C-reactive protein (CRP) + 1444C/T, CRP + 1059G/C polymorphisms and chronic periodontitis ( CP ) in a Han Chinese population. Methods Clinical periodontal parameters[ attachment loss( AL) probing depth(PD) and bleeding on probing(BOP) ] , and serum CRP levels were examined in CP patients (re = 126) and healthy subjects ( n = 113). Results The mean serum CRP level [ (1. 74 ± 1. 67) mg/L] was significantly higher in the CP group than in the control group [ (0. 57 ± 0. 39) mg/L] , P < 0. 001. In the control group, serum CRP levels were significantly lower in subjects with the CRP + 1059 GC and CC genotypes than those with the CRP +1059 GG genotype (P < 0.01). There was no significant difference between genotypes in the CP group. In CP and the control groups, serum CRP levels were significantly higher in subjects with the CRP + 1444 CT and TT genotypes compared to those with the CRP + 1444 CC genotype (P <0. 5). The percentage of CRP + 1059 C allele was 6. 7% (17/252) in the CP group and 4. 9% (11/226) in the control group. The percentage of CRP + 1444 T allele was 6. 3% (16/252) in the CP group and 5. 3% (12/226) in the control group (P > 0. 5). There was no significant difference between groups in both allele frequencies (P > 0. 5 ). The association of CRP + 1059G/C, CRP + 1444 C/T polymorphisms with CP was not found in a regression model ( P > 0. 5). Conclusions The presence of a CRP + 1059C-allele was associated with lower serum CRP levels and the presence of a CRP + 1444T-allele was associated with higher serum CRP levels. However, the data suggested that CRP + 1059G/C, CRP + 1444 C/T polymorphisms were not significantly associated with serum CRP levels of chronic periodontitis patients in ethnic Han Chinese.     

IL-1β和TNF-α基因多态性与慢性牙周炎的相关性分析

目的探讨细胞因子基因多态性与中、重度慢性牙周炎遗传易感性的关系。方法采用PCR-RFLP方法检测IL-1B 3953和TNF-Α-308基因型。采用多变量Logistic回归模型,确定IL-1B 3953和TNF-Α-308等位基因2阳性基因型对中、重度慢性牙周炎的影响。结果中、重度慢性牙周炎组IL-1B 3953(28.23%)和TNF-Α-308(29.03%)等位基因2阳性基因型出现的频率和对照组(分别为13.95%和11.05%)相比有显著性差异(P<0.01)。多变量Logistic回归模型分析结果显示,携带等位基因2阳性基因型的个体较携带阴性型个体发生中、重度慢性牙周炎的危险性相对较大,且统计学有显著意义(IL-1B 3953和TNF-Α-308分别为P<0.05,P<0.01)。结论IL-1B 3953和TNF-Α-308等位基因2阳性基因型可能与中、重度慢性牙周炎易感性有关。     

降钙素基因相关肽基因多态性与成人重度牙周炎关系的初步研究

目的:研究中国广东人降钙素基因相关肽(calcitoningene-relatedpeptide,CGRP)基因多态性与成人重度牙周炎易感性的关系。方法:收集40例成人重度牙周炎患者和46例健康对照组的颊黏膜拭子,抽提DNA,通过PCR扩增出CGRP基因片段。结果:基因测序法证明该扩增序列来自CGRP基因(参照Gen bank收录的X15943CGRP基因序列)。进一步检测来自重度牙周炎患者的扩增CGRP基因序列,发现在检测的CGRP 5247位点,发生了A-C单核苷酸基因多态性(SNP)。结论:CGRP 5247位点发现等位基因杂合子多态性现象的存在;CGRP 5247位点单核苷酸多态性,可能成为中国广东人牙周炎的易感因素之一。     

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。     

肿瘤坏死因子A-308基因型与新疆伊犁地区哈萨克族重度慢性牙周炎的关系

目的 :探讨肿瘤坏死因子 (tumornecrosisfactor α ,TNF)A 3 0 8位点基因多态性与新疆伊犁地区哈萨克族重度慢性牙周炎易感性的关系。方法 :收集新疆伊犁地区哈萨克族 45例重度慢性牙周炎 (CP)患者及85例牙周健康 (或仅轻度牙龈炎 )对照者的颊黏膜拭子 ,采用Chelex 10 0法提取DNA ,多聚酶链反应 -限制性片段长度多态性 (PCR -RFLP)方法对其进行基因多态性检测 ,分析两组间基因型的分布情况。结果 :TNFA 3 0 8基因型在新疆伊犁地区哈萨克族重度慢性牙周炎组以及健康对照组之间的分布无差异 ( χ2 =0 .0 0 15 ,P =0 .9689)。结论 :TNFA 3 0 8基因多态性与新疆伊犁地区哈萨克族重度慢性牙周炎无相关关系。     

Fcγ受体IIA基因多态性与慢性牙周炎易感性的相关性研究

目的　探讨Fcγ受体ⅡA基因多态性和慢性牙周炎的易感性相关关系。方法　采用序列特异性引物多聚酶链反应(PCR-SSP),对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Fcγ受体 ⅡA基因多态性进行检测,比较各组间基因型分布及等位基因频率的差异。结果　FcγRⅡA-R/R131基因型在重度慢性牙周炎与健康对照组之间的分布差异有显著性(P<0·012 5),而在轻中度慢性牙周炎组与健康对照组、重度慢性牙周炎组与轻中度慢性牙周炎组之间的分布差异无显著性(P>0·012 5)。结论　FcγRⅡA-R/R131基因型与慢性牙周炎的严重程度相关,提示其可能与汉族人群慢性牙周炎的易感性有关。     

Analysis of the association of polymorphism in the osteoprotegerin gene with susceptibility to chronic kidney disease and periodontitis

Background and Objective:  Chronic kidney disease (CKD) is a complex disorder, which results in several complications involving disturbance of mineral metabolism. Periodontal disease is an infectious disease that appears to be an important cause of systemic inflammation in CKD patients. Periodontal disease is characterized by clinical attachment loss (CAL) caused by alveolar bone resorption around teeth, which may lead to tooth loss. Osteoprotegerin (OPG) is a key regulator of osteoclastogenesis. Polymorphisms are the main source of genetic variation, and single nucleotide polymorphisms (SNPs) have been reported as major modulators of disease susceptibility. The aim of this study was to investigate the association of a polymorphism located at position –223 in the untranslated region of the OPG gene, previously known as –950, with susceptibility to CKD and periodontal disease.
Material and Methods:  A sample of 224 subjects without and with CKD (in hemodialysis) was divided into groups with and without periodontal disease. The OPG polymorphism was analyzed by polymerase chain reaction and restriction fragment length polymorphism.
Results:  No association was found between the studied OPG polymorphism and susceptibility to CKD or periodontal disease.
Conclusion:  It was concluded that polymorphism OPG –223 (C/T) was not associated with CKD and periodontal disease in a Brazilian population. Studies on other polymorphisms in this and other genes of the host response could help to clarify the involvement of bone metabolism mediators in the susceptibility to CKD and periodontal disease.     

Assessment of single nucleotide polymorphism at IL-1A+4845 and IL-1B+3954 as genetic susceptibility test for chronic periodontitis in Maharashtrian ethnicity

BACKGROUND: The inflammatory response that is directed in large part by proinflammatory cytokine interleukin (IL)-1 is genetically determined, with some people having a more vigorous response than others to the same stimulus. The reason for this is speculated that the dysregulated production of IL-1 in some individuals overrides the feedback mechanisms that normally master the dose of inflammation to a level sufficient to fight microbial invasion without long-lasting damage to the tissues involved. The aims of the present study were to determine the distribution of IL-1 gene polymorphism (IL-1A+4845 and IL-1B+3954) and their association with periodontal disease severity and to determine the significance of detecting the composite genotype (IL-1A allele2+IL-1B allele2) versus detecting either of them alone. METHODS: A total of 120 subjects were included and divided into four groups of 30 subjects each, namely, healthy, mild, moderate, and severe periodontitis groups. After a complete clinical examination, DNA was isolated from 0.5 ml blood. Specific primers were used to detect the presence of IL-1 gene polymorphism with the help of polymerase chain reaction (PCR) and subsequent allele detection with restriction fragment length polymorphism (RFLP) and separation by gel electrophoresis. RESULTS: The distribution of the allele1 homozygous genotype was 3% in the severe periodontitis group, and the distribution for the allele2 genotype was 30%. A higly significant difference (Wilcoxon signed-rank test; P<0.001) was seen between subjects positive and negative for the composite genotype. CONCLUSIONS: Results of the present study reinforced the association of the IL-1 genotype as a risk factor for severe chronic periodontitis. Positivity for the composite genotype was found to be significantly associated with severe chronic periodontitis (odds ratio [OR]=12.42).     

A critical assessment of interleukin-1 (IL-1) genotyping when used in a genetic susceptibility test for severe chronic periodontitis

BACKGROUND: This review addresses the ability of a commercially available genetic susceptibility test to determine the risk of developing severe chronic periodontitis. The test is used to detect the simultaneous occurrence of allele 2 at the IL-1A+4845 and IL-1B+3954 loci. If both of these polymorphisms are present, patients are referred to as being genotype-positive and considered predisposed to becoming afflicted with severe chronic periodontitis. A basic premise of this test is the assumption that individuals who are genotype-positive produce increased amounts of IL-beta in response to microbial lipopolysaccharides, which allegedly predisposes them to an exaggerated inflammatory response and an increased incidence of chronic periodontitis. METHODS: Controlled clinical trials were selected that evaluated the ability of the genetic test to predict which patients were susceptible to bleeding upon probing, periodontitis, peri-implantitis, and tooth loss. RESULTS: Comparison of results from test (genotype-positive) and control groups (genotype-negative) revealed that there is ambiguity with regard to predicting which patients will manifest elevated sub-gingival levels of IL-beta. Similarly, it is questionable if the test is able to forecast which individuals will demonstrate an increased occurrence of bleeding upon probing, diminished clinical attachment, decreased osseous support, or loss of teeth. CONCLUSIONS: There are many unanswered questions concerning the utility of detecting allele 2 at the IL-1A+4845 and IL-IB+3954 loci to foretell which patients will develop severe chronic periodontitis. Therefore, clinicians must cautiously interpret results obtained with the commercially available genetic susceptibility test before they alter maintenance schedules or treatment regimens of symptomatic or asymptomatic patients.     

Prevalence of OPG and IL-1 gene polymorphisms in chronic periodontitis

AIM: To investigate the association of polymorphisms in the osteoprotegerin (OPG) and interleukin 1 (IL-1) genes with chronic periodontitis (CP). MATERIAL AND METHODS: One hundred and ninety-four individuals (97 CP patients, 97 controls) were genotyped for the OPG polymorphisms Lys3Asn and Met256Val and for the IL-1 polymorphisms IL-1A (-889C/T) and IL-1B (+3953C/T). RESULTS: The homozygous variants coding for Lys3 were present at a higher frequency, whereas Asn3 and Met256 were present at a lower frequency in CP patients/controls (Lys3: 31%/25%, Asn3: 23%/32% and Met256: 66%/73%). Heterozygosity for Lys3Asn was observed at a higher frequency in CP patients/controls (46%/43%). Homozygosity for the Val256 genotype was observed in two CP patients (one in controls). Met256Val heterozygosity was more prevalent in CP patients/controls (32%/20%). All differences were statistically not significant between CP patients and controls. In contrast, both IL-1 polymorphisms were statistically significant. The heterozygous variant for IL-1A was present in 32% of the CP patients and in 20% of the controls (homozygosity (patients/controls) CC: 10%/21% and TT: 55%/33%). Heterozygosity for IL-1B was observed in 37% of the CP patients versus 34% in the controls (homozygosity (patients/controls) CC: 26%/57% and TT: 37%/9%). CONCLUSION: While the association between the IL-1 polymorphisms and CP was confirmed, no association between the OPG polymorphisms and CP could be found.