内皮细胞型一氧化氮合成酶Glu298Asp基因多态性与牙周炎伴Ⅱ型糖尿病的相关性研究

目的研究内皮细胞型一氧化氮合成酶（eNOS）Glu298Asp基因多态性与牙周炎伴Ⅱ型糖尿病易感性的关系。方法收集慢性牙周炎患者、慢性牙周炎伴Ⅱ型糖尿病患者、Ⅱ型糖尿病患者和牙周健康者的颊黏膜拭子,提取DNA后应用聚合酶链反应-限制性片段长度多态性法检测eNOS Glu298Asp的基因型分布。结果慢性牙周炎组、 Ⅱ型糖尿病组、慢性牙周炎伴Ⅱ型糖尿病组、正常组eNOS Glu298Asp基因型的分布差异有统计学意义（掊2＝18.503, P＝0.005）,等位基因频率分布差异也有统计学意义（掊2＝8.243,P＝0.041）。慢性牙周炎伴Ⅱ型糖尿病组与正常组相比,T基因型的OR值为0.962,95%可信区间为0.737～1.256,说明T基因型可能为糖尿病和牙周炎的保护因素;G基因型的OR值为1.043,95%可信区间为0.781～1.391,说明G基因型可能为二者的危险因素,但差异无统计学意义。结论慢性牙周炎、慢性牙周炎伴Ⅱ型糖尿病、糖尿病的易感性可能与eNOS Glu298Asp多态性有关。     

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.     

C-反应蛋白+1059G/C单核苷酸多态性与侵袭性牙周炎的相关性研究

目的:初步分析C-反应蛋白(CRP)+1059G/C单核苷酸多态性与侵袭性牙周炎易感性之间的相关关系.方法:收集侵袭性牙周炎患者的颊黏膜拭子,采用Chelex-100法提取其DNA,然后应用PCR-RFLP法检测CRP+1059G/C的基因型分布,并与慢性牙周炎组及牙周健康对照组的基因型相比较,统计分析侵袭性牙周炎的发...     

RAGE基因多态性与2型糖尿病伴慢性牙周炎遗传易感性的相关研究

［摘要］ 目的 探讨晚期糖基化终产物受体(receptor for advanced glycation end products, RAGE)基因的5个SNP位点在2型糖尿病伴慢性牙周炎、单纯慢性牙周炎、健康对照北方汉族人群中分布的差异,从而研究RAGE基因是否为糖尿病和牙周炎可能的致病易感基因。方法 运用飞行时间质谱法检测19例2型糖尿病伴慢性牙周炎患者(DM组),22例单纯慢性牙周炎组(CP组)以及54例健康对照组(H组)全血基因组DNA中5个单核苷酸多态性(single nucleotide polymorphism, SNP)位点。结果 rs17846808、rs1800625、rs184003、rs2070600、rs3134940基因多态性在三组间分布无差异。DM组中的rs3134940 A/A（野生纯合子）基因型人群的龈沟出血指数(sulcus bleeding index,SBI)显著高于(A/G+G/G,杂合子和突变纯合子)基因型人群的SBI。CP组中的rs1800625 (T/C+C/C)和rs3134940 (A/G+G/G,杂合子和突变纯合子)基因型人群缺失牙数显著性增高。结论 RAGE基因并非2型糖尿病以及慢性牙周炎的易感基因。rs3134940 G等位基因可能在2型糖尿病伴慢性牙周炎进展过程中起到一定保护作用。     

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.     

环氧合酶-2-1195GA多态性与2型糖尿病对慢性牙周炎易感性的影响

目的:研究环氧合酶-2(COX-2)-1195GA多态性与2型糖尿病对牙周炎易感性的影响。方法:采用病例对照实验设计,选择46例单纯2型糖尿病患者、76例糖尿病伴牙周炎患者、158例单纯牙周炎患者以及112例健康对照者。应用聚合酶链反应—限制性内切酶片段长度多态性基因分析方法(PCR-RFLP),采用卡方检验比较COX-2基因-1195GA位点的基因型和等位基因频率在各组间的分布差异,并计算其与牙周炎的危险度(OR)。结果:与健康组比较,COX-2基因-1195GA位点的AA基因型以及等位基因A在牙周炎组和糖尿病伴牙周炎组中存在统计学差异(P=0.053和P=0.017);2型糖尿病对慢性牙周炎的危险度为1.667(95%CI 0.658～4.222,P=0.281),AA+GA基因型对慢性牙周炎的危险度为2.027(95%CI 1.135～3.621,P=0.017),两者叠加效应对慢性牙周炎的危险度为2.130(95%CI 1.104～4.108,P=0.024),差异具有统计学意义。结论:COX-2基因的-1195GA多态性可能提高了2型糖尿病患者对慢性牙周炎的易感性。     

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。     

白细胞介素13基因-1112C/T多态性与慢性牙周炎的相关性研究

目的 探讨白细胞介素13(interleukin-13,IL-13)基因启动子区-1112C/T多态性与慢性牙周炎易感性的相关性.方法 采用病例对照试验设计,慢性牙周炎患者110例(慢性牙周炎组)和牙周健康者106例(健康对照组),聚合酶链反应-限制性片段长度多态性方法检测两组患者IL-13基因-1112位点基因型和等位基因分布特点.结果 IL-13基因-1112位点C、T等位基因频率(x2=0.886,P=0.347)及基因型频率(x2=1.982,P=0.371)在两组间分布差异无统计学意义.结论 IL-13基因-1112位点的多态性与汉族人群慢性牙周炎的易感性无明显相关性.     

IL-6-572基因多态性与侵袭性牙周炎易感性的相关性研究

目的 研究白细胞介素-6(interleukin-6,IL-6)-572位点基因多态性与侵袭性牙周炎易感性的关系.方法 采用病例对照试验设计,从广东汉族人群中选择83例侵袭性牙周炎(aggressive periodontitis,AgP)患者(AgP组)及79例牙周健康者(对照组),采用聚合酶链反应—限制性内切酶片段长度多态性分析方法对IL-6-572位点基因多态性进行检测,分析组间基因型频率及等位基因分布的差异.结果 IL-6基因启动子区-572位点G/C基因型在AgP组、对照组中的分布频率差异有统计学意义(x2=13.710,P=0.001).AgP组与对照组相比,G、C等位基因频率分布差异有统计学意义(x2=13.213,P<0.001),G等位基因相对于C等位基因:OR值为2.988,95%CI:1.634~5.465.结论 IL-6-572 G/C位点的基因多态性同中国广东汉族人群侵袭性牙周炎患病易感性可能存在相关关系,IL-6-572 G等位基因可能是广东汉族人群AgP遗传易感性的高风险因素.     

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。     

Association between lactoferrin gene polymorphisms and aggressive periodontitis among Taiwanese patients

Background and Objective: A dramatic difference in the frequencies of the Lys/Arg single nucleotide polymorphism in the lactoferrin genotype between a small population of patients with localized juvenile periodontitis and healthy subjects has been reported. As the single nucleotide polymorphism could be associated with ethnicity, the present study aimed to investigate the association between polymorphisms of the lactoferrin gene and periodontitis. Material and Methods: Sixty‐five patients with aggressive periodontitis, 278 with chronic periodontitis and 88 healthy controls were genotyped for the Lys/Arg polymorphism of the lactoferrin gene at position 29 [reference sequence (rs) 1126478] in the N‐terminal alpha‐helical region. Results: The frequencies of the GG genotype and the G allele were highest in the aggressive periodontitis group, followed by the chronic periodontitis group and then the healthy controls. The frequency of the G allele was significantly higher in aggressive periodontitis and chronic periodontitis groups than in healthy controls (p = 0.0037 and 0.0212). Although the difference of the GG genotype distribution between subjects with chronic periodontitis and healthy controls did not reach significance, the distribution of genotypes between aggressive periodontitis and healthy controls was significantly different. The association of the gene polymorphism and aggressive periodontitis still existed, even after adjusting for age, gender and smoking status by logistic regression analysis (GG/AG+AA: odds ratio = 2.16, 95% confidence interval = 1.09–4.35, p = 0.0287). After the study, subjects were further stratified by their smoking status; the GG genotype was still significantly associated with the risk of aggressive periodontitis in the nonsmoking group (odds ratio = 2.69, p = 0.018). However, there were no statistical differences between chronic periodontitis vs. healthy controls and aggressive periodontitis vs. healthy controls in the smoking group. Conclusion: The present study revealed that the A/G polymorphism in the lactoferrin gene might be associated with aggressive periodontitis. The A allele might reduce the risk of development of aggressive periodontitis in a Taiwanese population. Our results also support the hypothesis that lactoferrin genetic polymorphisms could play a role in the risk for periodontitis separate from the smoking factor. The functionality of this gene’s polymorphisms has to be further elucidated.     

Genetic polymorphisms in the MMP-1 and MMP-3 gene may contribute to chronic periodontitis in a Brazilian population

OBJECTIVES: Matrix metalloproteinase-1 and -3 (MMP-1, MMP-3) represent proteinases that degrade macromolecules of the extracellular matrix. These enzymes play a fundamental role during destruction of periodontal tissues. Genetic polymorphisms were characterized in the promoter region of the MMP-1 and MMP-3 genes. The aim of this study was to investigate the relationship between these genetic variations with chronic periodontitis in a Brazilian population. MATERIAL AND METHODS: Non-smoking subjects (n = 114) exhibiting sites > or = 5 mm clinical attachment loss were recruited for study. Control subjects (n = 109) should not exhibit clinical signals of periodontitis. MMP-1 (-1607 1G/2G, -519 A/G) and MMP-3 (-1612 5A/6A) gene promoter polymorphisms were genotyped using PCR-RFLP methods. RESULTS: Analysis of polymorphisms showed no differences in distribution of the -1607 1G/2G and -519 A/G variants in the MMP-1 gene between the healthy and periodontitis group (p > 0.05). However, the distribution of genotype frequencies of the -1612 5A/6A polymorphism in the MMP-3 gene showed that the 5A/5A genotype was significantly more frequent in the periodontitis group (p = 0.008). The same was not observed in the 5A/6A genotype once only one 5A allele is carried. We also observed a trend to increase the frequency of the MMP-1/MMP-3 haplotype (2G/5A) in the periodontitis group (p = 0.08). CONCLUSION: On the basis of the results, no significant association is found for the MMP-1 polymorphisms with susceptibility of periodontitis, while the MMP-3 gene polymorphism may contribute to periodontal tissue destruction during periodontitis in Brazilian subjects.     

白细胞介素-4基因-590C/T多态性与慢性牙周炎易感性的Meta分析

目的:通过文献评价探讨白细胞介素-4(interleukin-4,IL-4)-590C/T基因多态性与慢性牙周炎(chronic periodontitis,CP)易感性之间的关系.方法:检索8个数据库,搜集国内外有关病例对照研究文献.根据种族进行亚组分析,采用Meta分析评估IL-4基因多态性与CP的关联性,同时进行发表偏倚的检验和异质性分析,并对结果进行敏感性分析 . 结果:最终有8个研究纳入系统评价,病例组628例,健康对照组717例 . Meta分析结果显示,IL-4基因-590C/T位点等位基因频率及基因多态性与研究人群CP易感性间均无显著相关性.进一步亚组分析显示,对于C等位基因而言,携带T等位基因增加了高加索人患CP的风险(C vs.T:OR=0.71,95％CI=0.56～0.89);高加索人种CP的易感性与-590C/T位点多态性显著相关(C vs.T:OR=0.71,95％CI=0.56～0.89;CC vs.CT:OR =0.60,95％CI=0.38～0.94;隐性模型CC vs.CT+TT:OR =0.61,95％CI=0.42～0.88),即高加索人中携带CC基因型者较携带CT与TT基因型者患CP风险减少39％,而亚洲人CP的易感性与该基因无显著相关性.结论:IL-4基因-590C/T位点多态性与高加索人CP易感性有一定相关性.这一结论尚需要大规模、多种族的流行病学研究加以验证.     

Genetic variations in the matrix metalloproteinase-1 promoter and risk of susceptibility and/or severity of chronic periodontitis in the Czech population

OBJECTIVES: Matrix metalloproteinase-1 (MMP-1) is a potent enzyme degrading extracellular matrix that was implicated in the pathogenesis of chronic periodontitis. Therefore, the aim of our study was to examine the association between three promoter polymorphisms of the MMP-1 gene and chronic periodontitis susceptibility and/or severity in a Czech population. MATERIALS AND METHODS: A total of 329 Caucasian subjects were enrolled in this study. They were 133 patients with mild to severe chronic periodontitis and 196 unrelated control subjects. MMP-1 promoter polymorphisms (-1607 1G/2G, -519A/G, and -422A/T) were genotyped using standard polymerase chain reaction-restriction fragment length product methods. RESULTS: Genotype analysis of the three single nucleotide polymorphisms across 27 different combinations showed significant association with chronic periodontitis (p<0.05). Analyses of individual polymorphisms showed no differences in distribution of the -519A/G and -422A/T variants between periodontitis and control groups. However, a trend to increased frequency of the -1607 1G allele was observed in patients with chronic periodontitis compared with the controls (p=0.054). When the groups were further stratified by smoking status, the 1G allele was associated with chronic periodontitis among non-smokers but not among smokers (p=0.033). On the contrary, the distribution of genotype frequencies of the MMP-1 -422A/T polymorphism was different between the patient and control smokers with respect to heterozygotes (73.91% versus 50.91%; p=0.017). CONCLUSIONS: Our results demonstrate that the polymorphisms in the MMP-1 promoter may have only a small effect on the etiopathogenesis of chronic periodontitis.     

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。     

Association among interleukin-6 gene polymorphism, diabetes and periodontitis in a Chinese population

Objectives:  Diabetics significantly increase risk for periodontitis. Interleukin-6 (IL-6) gene polymorphism may play certain roles in the progression of periodontitis with diabetes. The purpose of this study was to assess the association among IL-6 gene polymorphisms, type 2 diabetes mellitus (T2DM) and chronic periodontitis (CP) in a Chinese population.
Material and methods:  DNA was obtained from 159 patients with CP, 88 patients with T2DM, 110 patients with CP&T2DM and 135 control subjects. The -174/-572/-597 polymorphisms of IL-6 gene were investigated by restriction fragment length polymorphism of polymerase chain reaction products. The results were further confirmed by sequencing. Significance was set at P  < 0.008 after Bonferroni correction.
Results:  Among four groups, CP&T2DM group showed the lowest IL-6-572 CC genotype and C-allele frequencies (54.5% and 74.1%). In this regard, there were significant differences between CP&T2DM group and the control group [ P  = 0.006, odds ratio (OR)  =  0.475, 95% CI: 0.279–0.808 and P  = 0.002, OR = 0.502, 95% CI: 0.319–0.788 respectively]. Logistic regression with adjustment for age, gender, body mass index, smoking and stress showed no significant difference in terms of IL-6-572 genotypes ( P  = 0.058, OR= 0.523, 95% CI: 0.268–1.022).
Conclusions:  The IL-6-572 genotype and allele distributions are unique to subjects with CP&T2DM in a Chinese population.