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Assessment of 14 candidate gene polymorphisms as a risk factor for oral lichen planus in Japanese population

评估 14 个候选基因多态性作为日本人群口腔扁平苔藓的危险因素

基本信息

批准号：
17592067
负责人：
FUJITA Hajime
金额：
$ 2.24万
依托单位：
Niigata University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2005
资助国家：
日本
起止时间：
2005 至 2006
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-17592067/
关键词：
Oral lichen planus Susceptible gene SNP analysis Immunoglobulin receptor Cytokine FcγRIIIb TNFR2 Nano-Invader assay

项目摘要

Introduction : Oral lichen planus (OLP) is a refractory oral mucosal disease that is frequently encountered in the oral surgery clinic. Although the etiology is uncertain, defective cell-mediated immunity has been implicated in the pathogenesis of the OLP. In recent years, a number of immunohistochemical and serum-immunological studies have been performed for establishment of the disease etiology. Recently, Carrozzo et al. investigated genetic polymorphisms of 13 cytokine genes in the northern Italian population, indicating that tumor necrosis factor-α (TNF-α) and interferon-γ (INF-γ) were associated with disorder sensitivity of OLP. However, there has been no other genetic work, showing little information on the possible genetic association with OLP. In the present study, we analyzed the single nucleotide polymorphisms (SNPs) of 14 immune-related genes in Japanese patients with OLP.Materials and Methods : The study subjects consisted of 32 Japanese patients with OLP and 99 race-matche … More d unrelated healthy subjects referred to the Oral and Maxillofacial Surgery Clinic, Niigata University Medical and Dental Hospital between June 2002 and December 2005. After informed consent was obtained, we extracted genomic DNA from peripheral blood by the phenol/chloroform method, and determined genotypes for 14 immune-related genes, five for the immunoglobulin receptor genes, eight for cytokine genes, and one for a protease gene, with a Nano-Invader Assay. Significance of difference in the genotype frequency, allele frequency, and carriage rate was assessed by the chi-square test.Results : In TNF receptor 2 (TNFR2)+587, the G allele frequency and carriage rate were significantly higher in the patients than in the controls (p=0.0487, and p=0.0268, respectively), with an odds ratio of 2.7173 (95% confidence interval (CI) : 1.0995-6.7151). The immunoglobulin G Fc receptor (FcγR) IIIb gene was slightly associated with the frequency of the FcγRIIIb NA2 allele (p=0.1001), but failed to reach a statistical significance. There was no association for the other 12 genes.Discussion : It has been shown that the TNFR2 (+587) genetic variants regulate tumor necrosis factor-alpha-induced apoptosis, showing an asoociation with systemic lupus erythematosus, rheumatoid arthritis and severe chronic periodontitis. These findings suggested that TNFR2 (+587) genetic polymorphism would be a marker associated with susceptibility to OLP. In addition, FcγRIIIb NA2 allele frequency seemed to be increased in the OLP patients. Since FcγRIIIb NA2 exhibited a decreased neutrophil function, it would be interesting to study TNFR2 (+587) and FcγIIIb genotypes in combination in a larger group of OLP patients. Less

前言：口腔扁平苔藓（OLP）是一种难治性口腔粘膜疾病，是口腔外科临床常见的疾病。虽然病因尚不确定，但细胞介导的免疫缺陷与OLP的发病机制有关。近年来，许多免疫组织化学和血清免疫学研究已被用于建立疾病的病因。最近，Carrozzo等研究了意大利北方人群中13种细胞因子基因的遗传多态性，表明肿瘤坏死因子-α（TNF-α）和干扰素-γ（INF-γ）与OLP的疾病敏感性相关。然而，没有其他的遗传学工作，显示与OLP可能的遗传关联的信息很少。在本研究中，我们分析了日本OLP患者14个免疫相关基因的单核苷酸多态性（SNPs）。 ...更多信息 d 2002年6月至2005年12月期间转诊至新泻大学医学牙科医院口腔颌面外科诊所的无关健康受试者。在获得知情同意后，我们通过苯酚/氯仿法从外周血中提取基因组DNA，并使用Nano-Invader Assay确定14个免疫相关基因的基因型，5个免疫球蛋白受体基因，8个细胞因子基因和1个蛋白酶基因。通过卡方检验评估基因型频率、等位基因频率和携带率差异的显著性。结果：TNF受体2（TNFR 2）+587位点G等位基因频率和携带率在患者组明显高于对照组（分别为p=0.0487和p=0.0268），比值比为2.7173（95%置信区间（CI）：1.0995-6.7151）。免疫球蛋白G Fc受体（FcγR）IIIb基因与FcγRIIIb NA 2等位基因频率轻微相关（p=0.1001），但未达到统计学显著性。其他12个基因无相关性。讨论：TNFR 2（+587）基因变异体调节肿瘤坏死因子-α诱导的细胞凋亡，与系统性红斑狼疮、类风湿性关节炎和严重慢性牙周炎相关。提示TNFR 2（+587）基因多态性可能是OLP易感性的一个标志。此外，FcγRIIIb NA 2等位基因频率似乎在OLP患者中增加。由于FcγRIIIb NA 2表现出中性粒细胞功能降低，因此在更大的OLP患者组中研究TNFR 2（+587）和FcγIIIb基因型的组合将是有趣的。少