维生素D受体基因Tag I和Bsm I位点单核苷酸多态性与种植体周围炎的易感性研究

目的 研究维生素D受体(vitamin D receptor,VDR)基因Tag I和Bsm I位点单核苷酸多态性与种植体周围炎易感性的关系.方法 采用病例对照试验设计,收集种植体周围炎组及无种植体周围炎组各50例,应用聚合酶链反应-限制性内切酶片段长度多态性分析方法研究2组VDR Tag I和Bsm I位点的基因型以...     

维生素D受体基因TagI和BsmI位点单核苷酸多态性与种植体周围炎的易感性研究

目的研究维生素D受体（vitaminDreceptor,VDR）基因TagI和BsmI位点单核苷酸多态性与种植体周围炎易感性的关系。方法采用病例对照试验设计,收集种植体周周炎组及无种植体剧围炎组各50例,应用聚合酶链反应一限制性内切酶片段长度多态性分析方法研究2组VDRTagI和BsmI位点的基因型以及等位基因分布特点,并探讨其与种植体周围炎的相关性。结果VDR基因BsmI位点各基因型（X2=3．184,P=0．074）和等位基冈频率（,=3．269,P=0．071）在2组问分布差异无统计学意义。VDR基冈TagI位点主要基因型为TT纯合子和Tt杂合子,2种基因型（X2=4．337,P=0．037）和T、t等位基因频率（X2=3．907,P=0．048）在2组的分布差异具有统计学意义。TT型在种植体周围炎组中较为多见。结论避免吸烟、牙周炎病史等混杂因索后,种植体周围炎与VDRTaql位点单核苷酸多态性间存在遗传相关性,尚不能认为与BsmI位点的多态性相关。     

白细胞介素-6基因多态性与种植体周围组织疾病的相关性研究

目的    探讨白细胞介素-6基因的174位点（IL-6-174位点）单核酸多态性与种植体周围组织疾病的关系及其临床意义。方法    选择2017年10月至2019年2月在辽宁省人民医院口腔科诊治的健康种植体周围组织患者（健康种植体组）和种植体周围组织疾病患者（种植体周围组织疾病组）各80例,刮取患者口腔颊黏膜拭子,采用PCR-Sanger基因测序方法分析两组IL-6-174位点多态性的基因型和等位基因频率分布差异,探讨其与种植体周围组织疾病的相关性。结果　IL-6-174位点的3种基因型和等位基因分布频率在种植体周围组织疾病组与健康种植体组之间的差异均有统计学意义（基因型：χ2 = 6.262,P = 0.044;等位基因：χ2 =5.033,P = 0.025）;其中,CC基因型和C等位基因的OR值分别为4.03（95%CI为2.861 ~ 5.677）和1.823（95%CI为1.706 ~ 1.967）。进一步分析显示,3种基因型和等位基因分布频率在种植体周围炎组与健康种植体组之间的差异有统计学意义（基因型：χ2 = 7.741,P = 0.021;等位基因：χ2 = 6.711,P = 0.010）,但在种植体周围黏膜炎组与健康种植体组患者之间不存在IL-6-174G/C基因多态性的差异（基因型χ2 = 2.008,P = 0.366;等位基因χ2 =0.817,P = 0.366）。结论    IL-6-174基因位点的多态性与种植体周围组织疾病的易感性具有相关性。     

IL-1B＋3954C/T和IL-1B-511C/T基因多态性和种植体周围炎的相关性研究

目的：探讨研究种白介素1（IL-1）基因＋3954和-511位点单核酸多态性和种植体周围炎的关系以及临床意义。方法：采用病例对照实验设计,选取种植体炎患者以及对照组各50名,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研究两组IL-1B基因＋3954位点和-511位点基因型和等位基因分布特点,并探讨其与种植体周围炎的相关性。结果：IL-1B基因＋3954位点CC、CT基因型检出率为93%和7%,无TT基因型,两种基因型和C、T等位基因频率在组间分布差异无统计学意义（P〉0.05）;IL-1B基因-511位点主要以CT为主,检出率为58%,CC、CT基因型检出率都为21%。结论：排除吸烟,牙周炎病史等影响因素后,IL-1B基因＋3954位点和-511位点的多态性与种植体周围炎炎的易感性无关。     

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。     

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。     

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。     

叶酸代谢相关基因与非综合征性唇腭裂的关系

目的：研究叶酸代谢相关基因在中国华北人群中与非综合征性唇腭裂的关系。方法：利用聚合酶链反应-限制性片段长度多态性方法,在115例非综合征性唇腭裂患者和192名正常对照个体中,对CBS和SHMT1基因2个单核苷酸多态性（SNP）rs397589和rs1979276进行检测。利用拟合优度卡方检验,分析基因型分布频率是否符合Hardy-Weinberg平衡定律;应用UNPHASED软件包分析单个基因多态性位点以及基因-基因相互作用与非综合征性唇腭裂的相关性。结果：2个基因上的SNP位点基因型频率分布均符合Hardy-Weinberg平衡;等位基因分布在NSCL/P组与对照组之间无显著性差异;rs397589TT和rs1979276TT基因型能增加NSCL/P患病风险（OR=2.60,95%CI=0.43-15.87;OR=1.62,95%CI=0.22-11.70）;携带rs397589GT-rs1979276CT个体在患者中的频率高于对照组（χ2=4.780,P=0.029）。结论：CBS和SHMT1基因相互作用可能参与非综合征性唇腭裂的发生。     

PTCH基因多态性与散发性牙源性角化囊性瘤易感性的相关研究

目的研究中国大陆人群PTCH基因多态性与散发性牙源性角化囊性瘤(KCOT)易感性的关系。方法提取64例散发性牙源性角化囊性瘤患者和75例正常对照人群外周血基因组DNA,采用聚合酶链反应和限制性片段长度多态性(PCR-RFLP)方法分析PTCH基因exon183141T>G位点的单核苷酸多态性(SNP),采用χ2检验进行两组之间基因型、等位基因分布差异的比较。结果散发性牙源性角化囊性瘤中PTCH基因exon183141T>G位点,TT基因型与T等位基因的分布频率均较正常对照人群显著降低(P<0.05)。结论PTCH基因exon183141T>G位点的单核苷酸多态性可能与中国大陆人群散发性牙源性角化囊性瘤易感性有关。     

Relation of vitamin D and BsmI variant with temporomandibular diseases in the Turkish population

Vitamin D (VD) levels and several variants in the vitamin D receptor (VDR) gene are associated with the occurrence of diseases of the bones and cartilage. The aim of this research was to study and compare the association of the BsmI variant in the VDR gene as well as VD levels in disc displacement with reduction (DDR) between patients and healthy controls. This was a case-control study, in which 104 patients of DDR and 102 healthy individuals were studied. The Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) was used to diagnose temporomandibular diseases. The VDR BsmI variant was investigated, after extraction of genomic DNA, by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and the VD level in serum was measured. The serum VD level was significantly different between the patient and the control group (mean (SD) 13.20 (11.02) ng/mL versus 18.44 (10.03) ng/mL, respectively) (p=0.008). Serum VD assessment revealed that serious vitamin D deficiency was more prevalent in the patients than the controls (50.96% versus 21.56%) (p=0.00001). Logistic regression analysis revealed that the bb genotype and b allele carriers of VDR BsmI variant were significantly associated with increased risk of DDR (p=0.022 and p=0.01, respectively). VDR BsmI BB genotype was higher in the control group than the patient group (p=0.045). Genotype distributions for BsmI variant in the controls and the patients were confirmed using the Hardy-Weinberg equilibrium equation. The BsmI variant of the VDR gene and VD deficiency play role in DDR aetiopathogenesis in a Turkish population. Vitamin D level and VDR BsmI variation may be effective in a possible genetic-based DC/TMD Axis III to be created in the future.     

维生素D受体基因多态性与汉族人群慢性牙周炎易感性的关系

目的 探讨维生素D受体(VDR)基因多态性与汉族人群慢性牙周炎(CP)易感性的关系。方法 收集汉族轻、中、重度CP患者共166例及80名无牙周炎对照者的颊黏膜拭子，以Chelex-100法提取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VDR BsmI、VDR ApaI和VDR TaqI的基因型，分析组间基因型分布和等位基因频率的差异。结果 轻、中、重度CP患者中VDR ApaI等位基因A携带者明显多于对照组，重度CP与中度CP、重度CP与轻度CP患者间VDR ApaI基因型的分布差异均有统计学意义，中度CP与轻度CP患者间VDR ApaI基因型分布差异无统计学意义，而VDR BsmI、TaqI位点的基因型分布在患者组和对照组间差异无统计学意义。结论 VDR ApaI等位基因A可能与汉族人群CP的易感性有关。     

Polymorphisms in the vitamin D receptor gene are associated with periodontal disease

BACKGROUND: Genetic polymorphisms in the vitamin D receptor (VDR) gene are associated with bone homeostasis and diseases in which bone loss is a cardinal sign. The aim of this study was to determine whether chronic periodontal disease in a Brazilian population is associated with polymorphisms in the VDR gene. METHODS: Clinical examination and recordings of probing depth and clinical attachment level were performed in 113 unrelated adults who were divided into two groups: 44 healthy individuals (control group) and 69 subjects with chronic periodontitis (CP). DNA was obtained from the subjects' epithelial cells by scraping the buccal mucosa. Two polymorphisms in the VDR gene were analyzed by polymerase chain reaction, followed by Taql and BsmI restriction endonuclease digestion. RESULTS: Frequencies of VDR/TaqI and VDR/BsmI showed significant differences between the control group and the CP group (P < 0.05). The "Tb" haplotype was prevalent in the control group (43.2%), and the "TB" haplotype in the CP group (36.6%). The "TB" haplotype seemed to increase susceptibility to periodontal disease (odds ratio [OR] = 2.19). The heterozygous haplotype "TB/tb" was predominant in the CP group (OR = 4.32; P = 0.005). CONCLUSIONS: TaqI and BsmI polymorphisms of the VDR gene are associated with clinical attachment loss due to periodontal disease in a Brazilian population. These findings suggest that VDR genotype might be a risk indicator for susceptibility to chronic periodontitis.     

The short vitamin D receptor is associated with increased risk for generalized aggressive periodontitis

BACKGROUND: Generalized aggressive periodontitis (GAP) exhibits severe inflammation and alveolar bone loss. Vitamin D receptor (VDR) regulates both bone metabolism and inflammation-related genes, and its polymorphisms and haplotypes may affect the functional activity of the VDR protein in GAP. OBJECTIVE: We analysed the genetic effect of VDR start codon, intron, and exon polymorphisms, and their haplotypes on the development of GAP. MATERIALS AND METHODS: The VDR start codon 27823C > T (rs2228570, FokI), intron 8 60890G > A (rs154410, BsmI), and exon 9 61968T > C (rs731236, TaqI) polymorphisms were determined by using the polymerase chain reaction-restriction fragment length polymorphism analysis among 93 GAP patients and 143 healthy controls. RESULTS: The VDR start codon 27823*C/*C genotype was associated with an increased risk for GAP [odds ratio (OR) = 1.83, p = 0.028], but the intron 8 60880G > A and exon 9 61968T > C polymorphisms were not associated with GAP. The VDR haplotype homozygote ht1(C-G-T) carrying 27823*C allele was associated with a 1.8-fold increased risk of GAP (OR = 1.84, p = 0.030). CONCLUSION: These results demonstrate that the short VDR (27823*C/*C) protein may influence GAP susceptibility.     

Vitamin D receptor polymorphism (-1056 Taq-I) interacts with smoking for the presence and progression of periodontitis

Aim: The aim of this analysis was to investigate the relationship between a vitamin D receptor (VDR) polymorphism and the diagnosis and progression of periodontitis.
Material and Methods: Data were derived from two different studies, including 231 subjects with healthy periodontium, 224 aggressive periodontitis and 79 chronic periodontitis (CP) patients in a case–control investigation. Sixty-one of these CP patients also took part in an observational study with a 1-year follow-up, in which progression of periodontitis was determined at the subject level. All 534 subjects provided a blood sample from which genomic DNA was extracted to study VDR −1056 TaqI polymorphism.
Results: The interaction between smoking and VDR polymorphism was associated with the diagnosis of periodontitis in Caucasians [ p =0.001, odds ratio (OR)=1.33, 95% confidence intervals (CI)=1.12–1.57] and all subjects ( p =0.033, OR=1.60, 95% CI=1.04–2.48). In the longitudinal study, subjects were divided into two clusters at 1 year according to the median number of progressing sites (Δcumulative attachment loss >2 mm). Logistic regression analysis revealed that the interaction between VDR Taq-I polymorphism and smoking showed limited evidence of association with the "severe progression" cluster ( p =0.033, OR=15.24, 95% CI=1.24–187.42).
Conclusions: Vitamin D receptor Taq-I TT polymorphism was moderately associated with both the presence and the progression of periodontitis in smokers, while no association was detected in non-smoking individuals. VDR genetic factors may interact with smoking in the pathogenesis of periodontitis.     

Serum vitamin D levels of patients with oral squamous cell carcinoma (OSCC) and expression of vitamin D receptor in oral precancerous lesions and OSCC

Background: Resistance to programmed cell death (apoptosis) is a crucial factor for the carcinogenesis of oral squamous cell carcinoma (OSCC). Vitamin D (calcitriol) may overcome apoptosis resistance in tumor cells of OSCC. Vitamin D receptor (VDR) expression in oral precancerous lesions of OSCC has not been analyzed and serum vitamin D level seems to be a predictor of cancer development. Material and Methods: Expression of VDR was analyzed in normal oral mucosa (n=5), oral precursor lesions (simple hyperplasia, n=11; squamous intraepithelial neoplasia, SIN I-III, n=35), and OSCC specimen (n=42) by immunohistochemistry (IHC). Moreover, serum vitamin D levels were measured by 25(OH)D3 (calcidiol) in patients with OSCC (n=42) and correlated with IHC results. Results: Expression of VDR was significantly increased in precancerous and OSCC compared with normal tissue. Compared with SIN I-III lesions VDR expression significantly decreased in OSCC. Severe vitamin D deficiency was detected in our OSCC patient cohort but there was no significant correlation analyzed between serum vitamin D levels and corresponding immunohistochemically detected VDR expression in OSCC. Conclusions: Our survey provides the first evidence of VDR expression in precancerous lesions of OSCC. Apoptosis induction of VDR+ cells in oral precancerous lesions and OSCC by natural vitamin D or synthetic vitamin D compounds could be useful for chemoprevention. Moreover, systemically and/or locally applied, these compounds may act as sensitizers for apoptosis mediated by radio-, and chemotherapy treatment in OSCC. Key words:Oral cancer, oral precancer, lichen planus, leukoplakia, apoptosis, serum 25(OH)D3, vitamin D receptor, chemoprevention, multistep carcinogenesis.     

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.