维生素D受体基因FokⅠ位点多态性与汉族人群中重度牙周炎易感性的关系

目的：探讨维生素D受体（VDR）基因FokⅠ位点多态性与汉族人群中重度慢性牙周炎（CP）易感性的关系。方法：搜集汉族中重度牙周炎病人71例,并以50例牙周健康者作为对照组,均采外周静脉血提取基因组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FokⅠ基因型,并分析组间基因型和等位基因频率的差异。结果：CP组的基因型分布情况为：FF（24,33.8%）,Ff（38,53.5%）和ff（9,12.7%）,对照组为：FF（9,18%）,Ff（26,52%）及ff（15,30%）,组间比较有显著性差异（χ^2=7.14,P=0.028）。CP组等位基因频率为F（60.6%）,f（39.4%）,对照组为F（44%）,f（56%）,组间比较有显著性差异（χ^2=6.48,P=0.011）。FF基因型相对于（Ff＋ff）的OR=2.33（95%CI=0.97-5.57）;F等位基因相对于f的OR=1.95（95%CI=1.16-3.28）。结论：VDR基因FokⅠ位点多态性与汉族人中重度牙周炎易感性可能存在一定的联系。     

维生素D受体基因多态性与牙周炎易感性关系的研究进展

研究表明,牙周炎作为以菌斑微生物为始动因子的多因素慢性疾病,某些遗传因素可增加宿主对牙周疾病的易感性,甚至是某些早发性和（或）重度牙周炎的主要决定因素之一,它能影响和改变宿主对微生物的反应,并决定疾病的进展和严重程度。目前研究已发现多个基因序列的多态性与牙周炎易感性有关,维生素D受体（vitamin D recepfor,VDR）是其中之一。VDR通过介导维生素D的主要活性代谢产物1,25-二羟胆骨化醇（1,25-（OH）2D3）,在调节机体钙磷平衡、骨代谢及组织生长分化等方面发挥重要作用。本文旨在论述VDR基因的生物学特征,及其多态性对牙周炎易感性和疾病进展的影响。     

HMGB1基因多态性与中国汉族人群慢性牙周炎易感性的关系研究

目的:探讨高迁移率族蛋白B1(high mobility group protein B1,HMGB1)基因多态性与中国汉族人群慢性牙周炎(chronic periodontitis, CP)易感性的关系。方法:选取150例CP患者作为CP组,健康体检正常者100例作为对照组。检测所有研究对象HMGB1基因单核苷酸多态性(single nucleotide polymorphism, SNP)位点多态性,应用Logistic回归分析HMGB1基因多态性与CP发病的关系。结果:CP组HMGB1基因rs2249825位点CC、CG、GG基因型分布频率与对照组比较,差异有统计学意义(P<0.05)。CP组HMGB1基因rs2249825位点G等位基因频率与对照组比较,差异有统计学意义(P<0.05)。在显性模式和隐性模式中,CP组HMGB1基因rs2249825位点基因型分布与对照组比较有统计学差异(P<0.05),与CC基因型比较,CG和GG基因型与CP发病有关(P<0.05)。Logistic回归分析显示,rs2249825位点基因多态性与CP发病相关,且CG/G...     

维生素D受体基因TaqI位点多态性与慢性牙周炎易感性的Meta分析

目的：探讨维生素D受体基因TaqI位点多态性与慢性牙周炎易感性的关系。方法：检索中国医学文献数据库（CBMdisc）、中国期刊全文数据库（CNKI）,Medline,搜集国内外有关病例对照研究文献,应用RevMan 4.2软件对符合条件的所有研究结果进行Meta分析,包括异质性检验、合并效应量和评估发表偏倚。结果：符合纳入标准的文献共5篇,病例组388例,对照组355例。TT,Tt,tt三个基因型频率的合并OR值及95%CI分别为1.2（90.89;1.87）,0.84（0.58;1.21）和0.7（50.36;1.59）,p〉0.05。T和t等位基因频率的合并OR值及95%CI分别为1.2（40.92;1.68）和0.80（0.59;1.09）,p〉0.05。结论：维生素D受体TaqI位点多态性与慢性牙周炎易感性可能无关。     

新疆墨玉县维吾尔族成人慢性牙周炎与维生素D受体基因多态性的相关性研究

目的:探讨维生素D受体(vitamin D receptor, VDR)基因BsmI、TaqI位点单核苷酸多态性(Single Nucleotide Polymorphisms, SNP)与新疆墨玉县维吾尔族成人慢性牙周炎(chronic periodontitis, CP)的相关性。方法:选取2013年3~4月课题组对新疆墨玉县维吾尔族进行的流行病学调查资料及采集的颊黏膜拭子样本,共纳入185例个体,包括CP患者95例和健康对照者90例,采用聚合酶链式反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism, PCR-RFLP)方法测定BsmI、TaqI位点基因型,探讨VDR基因多态性与CP的相关性。结果:对照组和CP组在BsmI位点的基因型分布有显著性差异,等位基因频率的分布亦有显著性差异(P=0.016,P=0.003);在TaqI位点两组间的基因型和等位基因频率的分布差异均无统计学意义(P=0.582,P=0.606);在男性和女性研究对象中两组间仅BsmI位点等位基因频率的分布差异有统计学意义(P=0.025,P=0.042);单因素logistic回归分析显示bb基因型和等位基因b可能是CP的易感因子。结论:新疆墨玉县维吾尔族成人慢性牙周炎的易感性可能与VDR基因BsmI位点相关,bb基因型和等位基因b可能是维吾尔族成人CP的易感因子。     

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。     

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.     

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。     

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。     

VDR基因多态性与宁夏回、汉人群慢性牙周炎易感性的相关性研究

目的：探讨维生素D受体基因（vitamin Dreceptor,VDR）ApaI位点单核苷酸多态性（single nucleotide polymorphism,SNP）与宁夏回汉人群慢性牙周炎（chronic periodontitis,CP）之间的相关性,并分析VDR基因的基因型和等位基因频率在回、汉人群中的分布是否有差异。方法：收集CP患者178例（汉族90例、回族88例）和健康对照者187例（汉族95例、回族92例）的静脉血,采用聚合酶链反应一限制性片段长度多态性（polymerase chainreaction--restriction fragment length polymorphism,PCR—RFLP）方法测定ApaI位点的基因型,应用病例对照研究分析VDR基因SNPs与CP的易感性是否有相关关系。结果：回族CP组和回族健康对照组在基因型的分布上有显著性差异,等位基因频率的分布上亦有显著性差异（P值分别为0．016、0．001）;汉族CP组和汉族健康对照组在基因型的分布上无显著性差异,等位基因频率的分布上亦无显著性差异（P值分别为0．096、0．301）;汉族CP组和回族CP组比较,两组基因型的分布有显著性差异（P值为0．036）,等位基因频率的分布上未见有显著性差异（P值为0．064）。结论：VDR基因ApaI（rs7975232）位点多态性与回族CP的易感性可能存在一定的相关性,但与汉族CP的易感性无关。     

维生素D受体和雌激素受体基因多态性与慢性牙周炎的相关性

目的 探讨维生素D受体、雌激素受体基因型与慢性牙周炎的相关性,比较宿主携带的各基因型对慢性牙周炎临床指标的影响.方法 将106例中、重度慢性牙周炎患者(牙周炎组)及80名牙周健康者(对照组)作为研究对象,采用Florida探针检测牙周炎患者的牙周探诊深度、临床附着丧失、龈沟出血指数、松动度等临床指标;抽取所有研究对象的前臂静脉血,饱和NaCl法提取DNA后使用聚合酶链反应(PCR)和酶切相结合的方法检测牙周炎组及对照组维生素D受体基因和雌激素受体基因的多态性,Z检验和方差分析进行数据分析.结果 慢性牙周炎患者携带维生素D受体BB基因型的个体百分比为43.4%,健康对照组为30.0%;慢性牙周炎患者携带雌激素受体XX基因型的个体百分比为39.6%,健康对照组为20.0%,差异有统计学意义(P<0.01).同时携带维生素D受体BB基因型、雌激素受体XX基因型的个体牙周状况较携带其他基因型的个体差.结论 维生素D受体等位基因B、雌激素受体等位基因X是中、重度慢性牙周炎的易感等位基因;这两种等位基因的共同携带对慢性牙周炎的病情进展有一定的促进作用.     

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。     

Association of vitamin D receptor gene polymorphisms with chronic and aggressive periodontitis in Jordanian patients

Vitamin D acts through binding with vitamin D receptor (VDR) and is responsible for regulating bone metabolism and mineralization; it also suppresses the immune system. The aim of this study was to investigate if VDR gene polymorphisms are associated with chronic periodontitis (CP) and aggressive periodontitis (AgP) in a Jordanian population. A total of 99 patients with CP, 63 patients with AgP, and 126 controls were genotyped using PCR‐restriction fragment length polymorphism (RFLP) for BsmI, ApaI, and TaqI single nucleotide polymorphisms (SNPs). The association was determined after correcting for confounding factors using multivariate logistic regression analysis. Estimation of haplotype frequencies was carried out using the EH program, and haplotypes were constructed using the phase 2.1 program. After correcting for confounding factors, multivariate logistic regression analysis revealed that inheritance of the BsmI bb genotype or the ApaI aa genotype was associated with increased risk of developing CP (OR = 2.4 and OR = 3.4, respectively) but with reduced risk of developing AgP (OR = 0.4 and OR = 0.3, respectively). This was further supported by association of the ba haplotype with CP but not with AgP. This study supports an association of VDR gene polymorphisms with CP and AgP in a Jordanian population; however, the pattern of association was different between the two diseases.     

Association of vitamin D receptor gene polymorphisms in Chinese patients with generalized aggressive periodontitis

Background and Objective:  The clinical features suggest that genetic factors may have a strong influence on susceptibility to aggressive periodontitis. The aim of this study was to investigate the association of vitamin D receptor gene polymorphisms with generalized aggressive periodontitis in Chinese patients.
Material and Methods:  A restriction fragment length polymorphism (RFLP) for 10,438,141 C to T (rs1544410, Bsm I), 10,382,063 A to G (rs731236, Taq I), 10,382,143 C to A (rs7975232, Apa I) and 10,416,201 A to G (rs2228570, Fok I) of vitamin D receptor gene was analysed by polymerase chain reaction, followed by digestion with restriction enzymes and gel electrophoresis. The genotypes of 51 generalized aggressive periodontitis patients and 53 periodontally healthy control subjects were analysed. The genotypic and allelic frequencies of each polymorphism site for the patients and control subjects were compared.
Results:  The distribution of vitamin D receptor Fok I genotypes and alleles between the two groups was significantly different ( p =  0.043 and p  = 0.012, respectively). The F allele seemed to increase the susceptibility of aggressive periodontitis (odds ratio = 2.02, 95% confidence interval = 1.16–3.50) in Chinese patients. There was no significant difference in the genotype distribution or the allele frequencies of vitamin D receptor Bsm I, Apa I and Taq I between two groups.
Conclusion:  The study indicates that Fok I polymorphism of vitamin D receptor gene might be associated with generalized aggressive periodontitis in Chinese patients. In addition, the carriage of F allele increases the risk of developing generalized aggressive periodontitis.     

FcγR基因型与早发性牙周炎易感性的研究

目的 探讨ＦｃγＲ基因多态性与早发性牙周炎（ｅａｒｌｙ－ｏｎｓｅｔ ｐｅｒｉｏｄｏｎｔｉｔｉｓ,ＥＯＰ）易感性的关系。方法 提取３３例ＥＯＰ和２７名健康对照者的静脉血白细胞ＤＮＡ,分别用ＰＣＲ＋ＢｓｔＵＩ酶切和ＰＣＲ＋测序检测ＦｃγＲⅡＢ和ＦｃγＲⅡＢ的基因型,比较各基因型检出率的差别。结果 ＦｃγＲⅡＡ基因型在两组间的分布无差别,ＦｃγＲⅡＢ ＮＡ１／ＮＡ１的检出率高于健康对照组。结论 ＦｃγＲ     

Association between vitamin D receptor polymorphisms and periodontitis: a meta-analysis

Background: The purpose of the meta‐analysis is to explore the association between vitamin D receptor polymorphisms (including four gene loci: Taq‐I, Bsm‐I, Apa‐I, and Fok‐I) for susceptibility to periodontitis (either chronic [CP] or aggressive [AP]). Up to now, there has been only one systematic review focusing on this topic. We obtained some different findings compared with the previously published literature. Methods: Nineteen case‐control studies were identified through a search of multiple electronic databases (from January 1, 1999 to June 30, 2011). The pooled odds ratios (ORs) and 95% confidence intervals (CIs) using codominant, dominant, and recessive genetic models from meta‐analysis were the main outcome measure. The Harbord test was used to detect the publication bias for each group. Results: Eighteen identified articles met the eligibility criteria. Through overall analyses, no statistical association was found between polymorphisms of the four gene loci and periodontitis. However, based on subgroup analyses, a significant association between the Taq‐I variants and CP rather than AP was shown in Asians (OR = 0.590; 95% CI = 0.425, 0.818) but not in whites (OR = 0.823; 95% CI = 0.637, 1.063). No statistically significant association was found between polymorphisms of Bsm‐I and Apa‐I with either AP or CP. The Fok‐I polymorphism showed a statistical association with AP (OR = 1.583; 95% CI = 1.157, 2.166) instead of CP (OR = 1.081; 95% CI = 0.638, 1.830) in Asians. Conclusions: The results of the present meta‐analysis indicate the following: 1) the mutant allele t of the Taq‐I locus may be a protective factor for CP but not for AP in Asians, although this was not true in whites; 2) the mutant allele F of the Fok‐I locus appeared to be a risk factor for AP rather than CP in Asians; and 3) Bsm‐I and Apa‐I polymorphisms were found to have no significant associations with susceptibility to periodontitis (CP/AP).     

Relationship between vitamin D receptor gene polymorphism and periodontitis

Recent studies have shown that vitamin D receptor (VDR) gene polymorphism had regulatory effects on bone mineral density (BMD) and bone turnover. The VDR gene has also been indicated as a candidate gene for the susceptibility of osteoporosis. However, it is unclear whether VDR genotypes could be associated with alveolar bone loss of patients with periodontitis, or whether vitamin D receptor gene could be a candidate gene for susceptibility to periodontitis. The purpose of this study was to answer these two questions. METHODS: Twenty-four cases of adult periodontitis (AP), 37 cases of early onset periodontitis (EOP) and 39 healthy controls were recruited for the study. Individual samples of venous blood and DNA were obtained from each subject. Genotypes of the TaqI VDR gene were determined by PCR and TaqI restriction endonuclease digestion. RESULTS: One out of 24 AP patients, nine out of 37 EOP patients and two out of 39 healthy controls were detected with Tt genotype, while the rest had the TT genotype. The detected frequency of Tt genotype was significantly higher in EOP patients (24.3%) than in AP patients (4.2%) and healthy controls (5.1%). The frequency of t allele was also significantly higher in EOP patients. There was no statistical difference in the distribution of TaqI VDR genotypes between AP patients and healthy controls. The study suggests that Tt genotype might be a risk indicator for the susceptibility to EOP. Carriage of the allele (t) of the TaqI VDR gene may increase the risk of developing EOP.     

Association of IL1 gene polymorphisms with chronic periodontitis in Brazilians

Chronic periodontal disease (PD) is an infectious immune-inflammatory illness. Polymorphisms in IL1 genes play a role in inflammatory diseases through the modulation of cytokine levels.

Objective

This study aimed to investigate the association between polymorphisms in the IL1 gene cluster and chronic periodontitis in a Brazilian population.

Design

A sample of 113 subjects over 25 years (mean age 41.2) were grouped into: 44 healthy individuals, 31 subjects with moderate and 38 with severe periodontitis. DNA was obtained through a mouthwash and oral mucosa scraping. PCR-RFLP was used to identify the following polymorphisms: IL1A C − 889T (rs1800587), IL1B C − 511T (rs16944), IL1B C + 3954T (rs11436340), IL1RN intron 2 (rs2234663). Differences in the allele/genotype/haplotype frequencies were assessed by Chi-square test (p < 0.05). The risk associated with alleles, genotypes and haplotypes was calculated as odds ratio (OR) with 95% confidence intervals (CI).

Results

Neither IL1A (C − 889T) nor IL1B (C + 3954T) polymorphisms was associated with chronic PD. Allele T for IL1B (C − 511T) only associated with PD in the group of blacks and mulattos. Moreover, genotype 2/2 for IL1RN (intron 2) was associated with severe PD.

Conclusions

Genotype 2/2 of IL1RN for the whole Brazilian population and allele T of IL1B (C − 511T) in a subgroup of Afro-Americans and mulattos were suggested as putative risk indicators for chronic periodontitis.