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。     

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。     

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6基因-572位点多态性与重度慢性牙周炎易感性的相关分析

目的 研究白细胞介素(IL)6基因-572位点(IL-6-572位点)多态性与重度慢性牙周炎敏感性的关系,以期从基因水平探讨慢性牙周炎的遗传学机制. 方法 用聚合酶链反应-限制性片段长度多态性法检测93例重度慢性牙周炎患者和96名健康对照者的IL-6-572位点基因多态性,比较两组间此位点基因型分布和等位基因频率的差异. 结果 IL-6-572位点CC、CG、GG基因型在牙周炎组和健康对照组的分布频率分别为52.7%、40.9%、6.4%和67.7%、31.3%、1.0%,3种基因型在牙周炎组与对照组的分布差异有统计学意义(P<0.05);等位基因G、C在牙周炎和对照组之间的比例分别为26.9%、73.1%和16.7%、83.3%,其频率分布差异亦有统计学意义(P<0.05).相对于CC基因型,暴露于CG基因型+GG基因型的相对危险度为1.88(95%CI:1.04-3.40,P<0.05). 结论 本组人群患重度慢性牙周炎的易感性与IL-6-572位点基因多态性有关,其风险随等位基因G的增加而显著增加.     

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。     

白细胞介素-4基因-590C／T多态性与慢性牙周炎的相关性研究

目的研究白细胞介素-4（interleukin-4,IL-4）基因-590C／T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,聚合酶链反应一限制性内切酶片段长度多态性基因分析方法,比较104例慢性牙周炎患者（慢性牙周炎组）和106例牙周健康者（健康对照组）IL-4基因-590位点基因型和等位基因分布特点。结果IL-4基因-590位点C、T等位基因频率（X2=0．771,P=0．380）及基因型频率（X2=1．904,P=0．386）在两组间分布差异无统计学意义。结论IL-4基因-590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。     

江苏地区汉族人侵袭性牙周炎易感性与维生素D受体基因多态性关系的研究

目的探讨江苏地区汉族人侵袭性牙周炎易感性与维生素D受体基因多态性的关系。方法纳入江苏汉族侵袭性牙周炎患者51例,并以53例汉族牙周健康者作为对照,均采取颊黏膜拭子,提取基因组DNA。采用聚合酶链反应-限制性片段长度多态性方法测定实验组和对照组维生素D受体基因BsmI、ApaI、TaqI和FokI位点的基因型。采用基因计数法分别统计各组样本基因型和等位基因的分布频率,分析组间基因型和等位基因频率分布的差异,并计算比值比。结果实验组和对照组FokI位点的基因型分布有显著性差异(χ2=6.32,P=0.04),FF基因型相对于(Ff+ff)的OR=2.90(95%CI=1.16-7.24);两组间的等位基因分布亦有显著性差异(χ2=6.26,P=0.01),F等位基因相对于f的OR=2.02(95%CI=1.16-3.50)。其余3个位点均未发现其基因型和等位基因分布在两组间存在差异。结论维生素D受体基因FokI位点多态性可能与江苏地区汉族人侵袭性牙周炎易感性有关。     

白细胞介素-1基因多态性与侵袭性牙周炎的关系

目的：研究中国人群中白细胞介素-1（IL-1）基因多态性与侵袭性牙周炎（AgP）之间的关系。方法：提取122例AgP患者和95例健康对照者外周静脉血基因组DNA,采用聚合酶链反应（PCR）分析IL-1A＋4845、IL-1B＋3954位点的单核苷酸多态性（SNP）及IL-1RN第二内含子中的可变数目重复序列（VNTR）多态性,采用多因素Logistic回归模型,进行两组之间基因型、等位基因分布差异的比较。结果：在IL-1A＋4845位点,AgP组男性患者A2^＋基因型的频率较男性健康组显著升高（P〈0．05=0．039）,等位基因A2的携带率也显著升高（P〈0．05=0．049）;未发现IL-1B＋3954位点和IL-1RN VNTR的多态性与AgP关联;未发现IL-1各复合基因型与AgP存在明显关联性。结论：IL-1A＋4845位点的SNP可能与中国人群中男性个体的AgP易感性有关。     

Analysis of the interleukin-6 gene promoter polymorphisms in Czech patients with chronic periodontitis

BACKGROUND: Chronic periodontitis is an inflammatory disease, which is a major cause of tooth loss. The proinflammatory cytokines interleukin-1 (IL-1) and interleukin-6 (IL-6) are key regulators of the host response to microbial infection and major modulators of extracellular matrix catabolism and bone resorption. The purpose of this study was to investigate the associations of chronic periodontitis with IL-6 gene polymorphisms (at positions -597 [G/A], -572 [G/C], and -174 [G/C]). METHODS: We analyzed allele, genotype, and haplotype distributions of the IL-6 promoter variants in a case-control study involving 148 patients with chronic periodontitis and 107 unrelated controls. RESULTS: Our results showed significant differences in the distributions of alleles and genotypes of the IL-6 (-572 G/C) polymorphism between patients and the control population (chi2 = 10.393, P= 0.001, P(corr) < 0.01). The difference was due to the underrepresentation of the -572 G/C heterozygotes in patients (6.1%) compared to controls (19.6%). Although no variant "CC" homozygotes were detected in our cases and controls, heterozygosity protected against chronic periodontitis, representing a 73% reduction of risk (odds ratio [OR] = 0.27, 95% confidence interval: 0.12-0.61) compared to wild-type homozygotes. However, there were no significant differences in genotype or allele frequencies between both groups for IL-6 -597 G/A and -174 G/C polymorphisms. CONCLUSION: This study is the first, to our knowledge, suggesting that the -572 G/C polymorphism of the IL-6 gene may be one of the protective factors associated with lower susceptibility to chronic periodontitis.     

广东人群中牙周炎、糖尿病及IL-6-572基因多态性对失牙数的影响

目的 在广东人群中研究牙周炎、糖尿病及IL-6-572基因多态性对失牙数的影响.方法 纳入492例广东籍受试者,完成2型糖尿病和牙周炎的筛查,记录失牙数,并取颊黏膜脱离细胞棉拭子,采用多聚酶链反应-限制性片段长度多态性法测定IL-6-572单核苷酸多态性位点的基因型.用析因方差分析评估人群中牙周炎、糖尿病及IL-6-572基因多态性对失牙的影响.结果 析因方差分析显示广东人群中牙周炎(F=15.631,P=0.000)、糖尿病(F =67.156,P=0.000)及IL-6-572基因多态性(F=6.273,P=0.013)对缺牙数的影响是显著的.同时,IL-6-572基因多态性和糖尿病组合的交互效应显著(F =6.044,P=0.014),含有CG+ GG基因型的糖尿病患者的平均失牙数最多(1.91颗).结论 牙周炎、糖尿病及IL-6-572基因多态性都是影响失牙数的重要因素,含有CG+ GG基因型的2型糖尿病患者可能会失去更多的牙.     

Polymorphisms of TLR4 but not CD14 are associated with a decreased risk of aggressive periodontitis

OBJECTIVE: To study whether there is an association between the frequency of functional polymorphisms in the toll-like receptor 4 (TLR4) and cluster differentiation 14 (CD14) genes and periodontitis. METHODOLOGY: Genotyping for the TLR4 single-nucleotide polymorphisms (SNPs) Asp299Gly, Thr399Ile and the CD14 SNPs -159 and -1359 was completed for subjects with periodontal disease compared with control subjects. Two disease populations were investigated: 73 subjects with aggressive periodontitis (AgP; 28 males, 45 females) and 95 males with chronic periodontitis (CP). The TLR4 and CD14 polymorphisms were determined using SNaPshot primer extension with capillary electrophoresis. Comparison of allele and genotype frequencies for each polymorphism was by Fisher's exact test or chi2 analysis. RESULTS: The TLR4 Asp299Gly genotype was present in a significantly (p=0.026) lower proportion of AgP subjects (5.5%) compared with control subjects (16.3%). The unadjusted odds ratio for the Asp299Gly genotype to be associated with AgP was 0.30, 95% confidence interval 0.10-0.91. No differences were found in the prevalence of the TLR4 Asp299Gly genotype in men with CP (18.9%) compared with an age-matched control group with no evidence of periodontitis (17%). In addition, there was no difference in the distribution of the CD14 polymorphisms in either the AgP or CP populations studied compared with controls. CONCLUSION: It is concluded that in West European Caucasians, the Asp299Gly TLR4 gene polymorphism is associated with a decreased risk of AgP but not CP. Promoter polymorphisms of the CD14 gene, however, did not influence susceptibility to inflammatory periodontitis in the population cohorts studied.     

雌激素受体XbaI和PvuⅡ基因多态性与侵袭性牙周炎的相关研究

目的:探讨侵袭性牙周炎(aggressive periodontitis,AgP)易感性与雌激素受体XbaI和PvuⅡ基因多态性的关系.方法:收集48 例侵袭性牙周炎(AgP)患者和60 例牙周健康对照组的颊黏膜拭子,采用Chelex-100法提取DNA,应用聚合酶链式反应-限制性片段长度多态性技术检测雌激素受体XbaI和PvuⅡ的等位基因及基因型频率在各组之间分布的差异.结果:XbaI基因型分布在AgP组与对照组、AgP组女性与对照组女性、AgP组男性与对照组男性之间均有显著性差异(P<0.05).其等位基因频率在女性组间有统计学意义(P<0.05). PvuⅡ基因型分布在AgP组与对照组之间均无明显差异,其等位基因频率分布有明显差异(P<0.05). 多因素logistic回归分析显示男性患病的可能性小(OR=0.352);随年龄增大患病的可能性变小(OR=0.950);当其他条件一定时,xx、Xx基因型的人患病的可能性小(OR 值分别为0.678,0.224).结论:侵袭性牙周炎易感性与雌激素受体XbaI基因型分布有关,XX基因型最易患病,其次为xx,Xx基因型.     

Interleukin-6 promoter polymorphism (-174 G/C) in Indian patients with chronic periodontitis

Recent studies have focused on genetic polymorphism of the interleukin-6 (IL-6) gene, which has led to a better understanding of the intricate interactions between host response, microorganisms, and genetics. Genotype prevalence appears to vary by the race and ethnicity of the population studied. We used a polymerase chain reaction technique to determine the prevalence of single nucleotide polymorphism in IL-6 at position -174 G>C in a population of 30 South Indians. Blood samples were collected from 15 chronic periodontitis patients and 15 healthy controls. The results showed that the G/G genotype was significantly more frequent in the chronic periodontitis group and that the C/C genotype was significantly more frequent in the control group (P = 0.0069 for both). The G allele was more frequent in chronic periodontitis patients (76.67%), whereas the C allele was more frequent in the control group (73.33%). Among chronic periodontitis patients, the odds ratio for having the G allele, as compared with the controls, was 9.04. In this population, the presence of the G/G genotype of IL-6 (-174) might increase susceptibility to chronic periodontitis, whereas the C/C genotype may have a protective effect.