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.     

白细胞介素-4-590C/T基因多态性与牙周炎易感性的Meta分析

目的 评价白细胞介素-4-590C/T(IL-4-590C/T)基因多态性与牙周炎易感性之间的关系.方法 计算机检索PubMed、Embase、ScienceDirect和Web of Science、CBM、CNKI、WanFang、VIP数据库,搜集国内外有关基因多态性与牙周炎相关性的病例对照研究,经文献筛选、资料提取和质量评价后,采用R 3.3.1软件进行Meta分析,按牙周病分类及人群种族进行亚组分析.结果 Meta分析结果 显示,总体:IL-4-590C/T等位基因频率及各基因型频率与牙周炎间无显著关联:(T vs C:OR=1.19,95%CI=0.811.76,P=0.37).亚组:高加索人种对于携带CC基因型而言,携带TT基因更具牙周炎易感性(TT vs CC:OR=1.75,95%CI=1.10~2.78,P=0.02),差异具有统计学意义,而该基因型在亚洲人种未见显著差异(P=0.63);在慢性牙周炎与侵袭性牙周炎中,均未发现IL-4-590C/T等位基因频率及基因型频率与二者存在易感性(以T vs C.为例,慢性牙周炎:OR=1.20,95%CI=0.75~1.90,P=0.45;侵袭性牙周炎:OR=1.17,95%CI=0.77~1.78,P=0.45).结论 IL-4-590C/T基因多态性与高加索人牙周炎易感性间有一定相关性,与亚洲人牙周炎易感性无关.     

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。     

白细胞介素-6基因-174G/C、-572C/G多态性与冠心病和慢性牙周炎的相关性的研究

目的研究白细胞介素-6基因-174G/C、-572C/G多态性与冠心病和慢性牙周炎易感性的关系。方法采用病例对照实验设计,选择129例冠心病伴中重度慢性牙周炎患者、47例冠心病患者、131例中重度慢性牙周炎患者和121例健康者,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,比较IL-6基因-174、-572位点基因型和等位基因频率在各组间分布特点。结果IL-6基因-174位点C等位基因在各组检出率极低为0%～0.8%。GG、GC两种基因型和G、C等位基因频率在组间分布差异无统计学意义（P〉0.05）。IL-6基因-572位点CC、GC、GG三种基因型和C、G等位基因频率在健康组和牙周炎组间分布差异无统计学意义（P〉0.05）,在冠心病组和非冠心病组间分布差异有统计学意义（P〈0.05）,G等位基因在冠心病组的检出率明显高于非冠心病组,差异有统计学意义（P〈0.01）。结论IL-6基因-174位点在中国汉族人群中变异率低。-572位点的多态性与慢性牙周炎的易感性无关,与冠心病有关,-572位点G等位基因可能是冠心病的易感标志。     

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.     

白细胞介素8基因-251位点多态性与侵袭性牙周炎的相关性研究

目的研究白细胞介素8（interleukin-8,IL-8）-251位点基因多态性与侵袭性牙周炎易感性的相关性。方法采用病例对照试验设计,从广东汉族人群中选择77例侵袭性牙周炎（aggressive periodontitis,AgP）患者（AgP组）及50例牙周健康者（健康对照组）,采用聚合酶链反应—限制性内切酶片段长度多态性方法对IL-8-251位点基因进行检测,分析组间等位基因和基因型频率的分布差异。结果 IL-8-251A/T位点的基因型和A、T等位基因频率在AgP组和健康对照组的分布差异无统计学意义（P〉0.05）。结论未发现IL-8-251A/T位点基因多态性与中国广东汉族人群侵袭性牙周炎的患病易感性之间存在相关性。     

IL-10-1082 G／A基因位点单核苷酸多态性与汉族人群重度慢性牙周炎发病风险的病例对照研究

目的探讨白细胞介素10（interleukin-10,IL-10）基因1082 C／A位点单核苷酸多态性与汉族人群重度慢性牙周炎（chronic periodontitis,CP）发病风险的关系。方法收集汉族重度慢性牙周炎患者146例及牙周健康对照者138人的颊黏膜拭子,以Chelex-100法提取基因组DNA,采用聚合酶链反应-限制性片段长度多态性（polymerase chain reaction restriction fragment length polymorphism,PCR-RFLP）分析法测定IL-10—1082 G／A基因型,并分析组间基因型和等位基因频率的差异。结果CP组和对照组AA基因型分布分别率为91．8％和89．1％,P=0．45;A等位基因频率分别为95．9％和94．6％,P=0．46,差异无统计学意义。结论IL-10—1082 G／A位点单核苷酸多态性与汉族人群重度慢性牙周炎发病风险无相关关系。     

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。     

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.     

白细胞介素基因多态性与汉族广泛型侵袭性牙周炎易感性的相关性研究

目的探讨白细胞介素10（interleukin-10,IL-10）启动子区域基因多态性与广泛型侵袭性牙周炎易感性的关系。方法收集30例广泛型侵袭性牙周炎患者和30名健康对照者的颊黏膜拭子,提取基因组DNA,采用PCR-RFLP方法检测IL-10基因启动子-1082G/A、-819C/T、-592A/C位点基因多态性,比较广泛型侵袭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-10-1082G/A、-819C/T、-592A/C位点等位基因频率和基因型分布在患者和对照组之间差异无统计学意义（P〉0.05）。结论IL-10启动子区基因多态性与汉族人群广泛型侵袭性牙周炎易感性无明显相关关系。     

IL-6、IL-6R和IL-4多态性与上海地区汉族人群慢性牙周炎患者的关联研究

目的 研究IL-6、IL-6R和IL-4基因组单核苷酸多态性（single nucleotide polymorphisms,SNPs）与上海地区汉族人群慢性牙周炎患者的相关性。方法 应用TaqMan荧光实时定量PCR方法,对128例牙周正常者和198例中度以上慢性牙周炎患者的IL-6 -572G/C、IL-6R 48892A/C和 IL-4 -590C/T等3个单核苷酸多态性位点进行分析。应用SPSS 17.0软件包对数据进行χ2检验分析。结果 分析显示这3个位点的基因型频率与等位基因频率在牙周正常组和慢性牙周炎组间的分布差异均无显著性。结论 IL-6 -572G/C、IL-6R 48892A/C和 IL-4 -590C/T基因组单核苷酸多态性位点与上海地区汉族人群的慢性牙周炎易感性无显著相关性。     

Single-nucleotide polymorphisms in the IL-4 and IL-13 promoter region in aggressive periodontitis

INTRODUCTION: IL-4 and IL-13 polymorphisms have been shown to influence the susceptibility to systemic diseases. In this study, possible associations between the IL-4 -590 C-->T, IL-4 -34 C-->T, IL-13 -1112 C-->T and IL-13 -1512 A-->C promoter polymorphisms were investigated in subjects with generalized aggressive periodontitis (AgP) compared with healthy individuals. MATERIAL AND METHODS: Fifty-eight patients with diagnosis of generalized AgP and 51 matched healthy controls participated in the study. Blood samples were collected and DNA isolated. Molecular analyses were performed by PCR-RFLP in a blind fashion. Genotype and allele frequencies among study groups were compared using Fisher's exact test (alpha value: 0.05). Pearson's chi(2) test was used for analysis of Hardy-Weinberg equilibrium. RESULTS: The frequency of the IL-4 -590 T/T and IL-4 -34 T/T genotypes differed significantly between groups (p=0.05, 0.02, respectively), although the allele frequencies were similar. There was a higher frequency of the IL-4 -590 T/T and IL-4 -34 T/T genotypes in patients with AgP compared with controls. The genotype and allele frequencies of the IL-13 polymorphisms did not differ between groups. CONCLUSIONS: This study demonstrated an association between the IL-4 -590 T/T and IL-4 -34 T/T genotypes and AgP. Further research is necessary to prove if there is an association of these polymorphisms with AgP, and if the polymorphisms have a functional effect.     

The association of interleukin-4 haplotypes with chronic periodontitis in a Czech population

BACKGROUND: Cytokine gene polymorphisms are known to influence the susceptibility and disease course of many chronic disorders. Recently, interleukin (IL)-4 gene polymorphisms were associated with aggressive periodontitis. The aim of this study was to test differences in the distribution of the IL-4 alleles, genotypes, and haplotypes between patients with chronic periodontitis (CP) and healthy controls in a Czech population. METHODS: The association study was conducted using an age- and smoking status-matched case-control design in patients with CP (n = 194) and healthy controls (n = 158) using the polymerase chain reaction-restriction fragment length polymorphism methods for the -590C/T, -33C/T, and intron 3 variable number tandem repeat (VNTR) variants of the IL-4 gene. RESULTS: No significant differences between patients and controls were found in allele and genotype frequencies of all three polymorphisms. Nevertheless, complex analysis revealed significant differences in haplotype frequencies between the groups (P = 0.005). The haplotype T(-590)/T(-33)/allele 2 VNTR (70 base pairs)(2) of the IL-4 gene was significantly more frequent in patients with CP than in controls (17.0% versus 11.0%; odds ratio = 1.85; 95% confidence interval: 1.19 to 2.87). CONCLUSION: The three polymorphisms in the IL-4 gene act in a cooperative fashion and suggest that the high-production IL-4 haplotype was associated with an increased risk for CP in the Czech population.     

Analysis of the interleukin-1 and interleukin-6 polymorphisms in patients with chronic periodontitis. A pilot study

The aim of this study was to analyse whether the interleukin-1 (IL-1) and IL-6 gene polymorphisms were associated with the susceptibility of chronic periodontitis. Genomic DNA was obtained from 20 patients with chronic periodontitis and 31 periodontally healthy subjects. All subjects were of North European heritage. The test subjects were kept in a maintenance program after periodontal treatment but yet showing signs of recurrent disease. Genotyping of the IL-1alpha [+4845C>T], IL-1beta [-3954C>T] and IL-6 [-174G>C] polymorphisms was carried out using an allelic discrimination Assay-by-Design method on ABI PRISM 7900 Sequence Detection System. All genotypes were analyzed using the GeneMapper 2.0 software. A similar distribution of Single Nucleotide Polymorphism (SNP) was seen in both groups. Analysis by logistic regression including gender, IL-1alpha [+4845C>T], IL-1beta [-3954C>T], IL-6 [-174G>C] genotypes, the composite IL-1 genotype, the combination of the composite IL-1 genotype and the IL-6 -174G>C genotype and adjusting for smoking did not result in any statistically significant difference. SNPs in IL-1alpha [+4845C>T], IL-1beta [-3954C>T] and IL-6 [-174G>C] do not seem to increase the susceptibility to chronic periodontitis in this group of subjects.     

Polymorphisms in the CD14 and IL-6 genes associated with periodontal disease

AIM: To compare the frequencies of cytokine and receptor molecule genotypes in patients with chronic periodontitis with the corresponding frequencies in a reference population and to study the relationship between periodontal disease severity and polymorphisms in the studied genes. SUBJECTS AND METHODS: CD14, IL-6, TNF-alpha, IL-10, IL-1alpha, IL-1beta, and TLR-4 polymorphisms of 51 periodontitis patients were studied using polymerase chain reaction. The genotype frequencies in the periodontitis patients and a reference population (n=178) were compared. Probing pocket depth (PD), periodontal attachment level (AL), and alveolar bone level (BL) were related to the genotypes. RESULTS: No statistically significant differences could be found between the frequencies of the cytokine genotypes in the periodontitis patients and in the reference group. The extent of periodontal disease was higher in subjects with the T-containing genotype of CD14(-260) and the GG genotype of IL-6(-174) when compared with the extent in the rest of the group. Subjects carrying the composite genotype of the above two were most severely affected by periodontal disease. CONCLUSION: According to the present results, an evident association exists between the carriage of the T-containing genotype of CD14(-260) and the GG genotype of IL-6(-174) and the extent periodontal disease.     

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。