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。     

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。     

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.     

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.     

Vitamin D receptor,CYP27B1 and CYP24A1 genes polymorphisms association with oral cancer risk and survival

J Oral Pathol Med (2012) 41 : 779–787 Background: Genetic polymorphisms of vitamin D receptor gene (VDR) and genes involved in vitamin D metabolism pathway, CYP27B1 and CYP24B1, may affect individual susceptibility to oral squamous cell carcinoma. The purpose of this study was to evaluate the associations between VDR, CYP27B1 and CYP24A1 gene polymorphisms with oral cancer risk and survival. Methods: Study cohort consisted of 110 patients with oral cancer and 122 healthy controls. The genotypes of the analysed genes were determined by PCR–RFLP or real‐time PCR method. Results: The significant decrease of oral cancer risk was observed in individuals with heterozygote genotype of CYP24A1 gene (rs2296241) (odds ratio 0.281, P = 0.000) in comparison with wild type. Patients with VDR FokI ff wild type genotype had significantly worse overall survival (P = 0.012, log rank) compared with heterozygous and mutated genotype combined. A stratified analysis by the lymph node involvement and tumour stage showed that ff is associated with poor survival in groups with and without lymph node involvement (P = 0.025, P = 0.040, respectively) and in stage III tumours (P = 0.026). Multivariate Cox’s regression analysis revealed that VDR FokI could be considered an independent prognostic factor. Conclusion: Our findings indicate that CYP24A1 gene polymorphism might have an influence on the susceptibility to oral cancer. VDR FokI polymorphism was associated with worse survival and could be considered as an independent prognostic marker.     

Associations between vitamin D receptor genetic variants and periodontitis: a meta-analysis

Objective: Numerous studies already investigated potential associations between vitamin D receptor (VDR) genetic variants and periodontitis. However, the results of these studies were not consistent. Previous studies failed to reach a consensus regarding associations between VDR variants and periodontitis partially because of their relatively small sample sizes. Thus, we performed the present meta-analysis to explore the relationship between VDR variants and periodontitis in a larger pooled sample size.

Material and methods: Systematic literature research was conducted in PubMed, Web of Science, Embase and CNKI to identify eligible case-control studies on associations between VDR variants and periodontitis. We calculated odds ratios (ORs) and 95% confidence intervals (CIs) to estimate the strength of associations in all possible genetic models, and p values ≤.05 were considered to be statistically significant.

Results: Totally 30 studies were enrolled for analyses. Pooled analyses suggested that VDR rs2228570 variant was significantly associated with the susceptibility to periodontitis under dominant genetic model in the overall population (p?=?.03, OR = 0.82, 95%CI: 0.69–0.98, I²?=?0). Further subgroup analyses yielded similar positive results for rs2228570 variant in East Asians and patients with chronic periodontitis. Nevertheless, no any other positive findings were observed in overall and subgroup analyses.

Conclusions: Our meta-analysis supported that VDR rs2228570 variant might serve as a genetic biomarker of periodontitis. However, further well-designed studies are still warranted to confirm our findings.     

雌激素受体XbaⅠ和PvuⅡ基因多态性与慢性牙周炎的相关研究

目的:了解慢性牙周炎易感性与雌激素受体基因多态性的关系。方法:收集55例中、重度慢性牙周炎患者和60例牙周健康的对照组的颊黏膜拭子,采用Chelex-100法提取DNA,应用PCR-RFLP检测雌激素受体基因的基因型分布。结果:中、重度慢性牙周炎组与对照组在XbaⅠ和PvuⅡ基因型分布上均无统计学意义;多元因素分析结果年龄的OR值为1.128(95%CI:1.079,1.179),即年龄每增加1岁,患中、重度慢性牙周炎的可能性变为1.128倍。当其他条件一定,Xx基因型的人患中、重度慢性牙周炎的可能性是XX基因型的0.187倍,xx基因型的人患重度慢性牙周炎的可能性是XX基因型的0.421倍。结论:中、重度慢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。     

TNFA-308等位基因多态与中重度成人牙周炎的相关性分析

目的：探讨肿瘤坏死因子-α（TNF-α）基因TNFA^-308等位基因2多态性与中重成人牙周炎遗传易感性的关系。方法：采用病例-对照研究方法和聚合酶链反应，限制性片段长度多态性分析（RFLP）的方法检测124例中重度成人牙周炎（AP）患者和172例正常对照的TNFA^-308基因型。结果：中重度成人牙周炎组TNFA^-308等位基因2阳性基因型出现的频率为29.03%(36/124)，对照组为11.05%(19/172)。两组差异有显著性意义（X^2=13.42,P=0.0002,OR=3.167,95%CI=1.71-5.87)。结论：TNFA^-308等位基因2阳性基因型可能与中重度成人牙周炎易感性有关。