FAMILY STUDIES OF EARLY ONSET PERIODONTITIS

早发性牙周炎的家庭研究

• 批准号: 3220758
• 负责人: JON B SUZUKI
• 金额: $ 24.67万
• 依托单位: UNIVERSITY OF PITTSBURGH AT PITTSBURGH
• 依托单位国家: 美国
• 财政年份: 1990
• 资助国家: 美国
• 起止时间: 1990-08-01 至 1993-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3220758
• 关键词: Actinobacillus actinomycetemcomitans; Haemophilus; adolescence (12-20); chemotaxis; dental disorder diagnosis; disease /disorder proneness /risk; early diagnosis; epidemiology; gender difference; gene expression; genetic disorder; human age group; human tissue; linkage mapping; neutrophil; oral bacteria; oral health; pathologic process; periodontitis; racial /ethnic difference

The early onset forms of periodontal disease, including juvenile (JP) and rapidly progressive (RP) periodontitis, are known to be familial disorders, but the etiology and pathogenesis are not clearly understood. Comprehensive and carefully designed family studies provide one of the most promising approaches to elucidating underlying cellular and biochemical correlates of JP and RP, as well as permitting investigation into the mode(s) of inheritance and variability of the phenotype(s). The purpose of the proposed research is to continue assembling the largest known collection of JP and RP patients, and to perform systematic and comprehensive clinical evaluations of probands and all available relatives. Neutrophil chemotaxis assays will be performed and serum antibodies to H. actinomycetemcomitans, B. gingivalis, as well as other bacteria will be determined. Possible (genetic) heterogeneity will be explored by the evaluation of demographic factors and familial variability in cellular, biochemical, and clinical parameters. Serum antibody reactivity will be correlated with clinical patterns of periodontal destruction (loss of attachment). Formal segregation analysis will be performed to test Mendelian hypotheses, and to estimate segregation ratios or transmission probabilities. Some limitations of the genetic analysis, including missing data and bias due to ascertainment, will be investigated using simulation studies. The results of these family studies will provide: (1) insight into potential methods of presymptomatic or early diagnosis; (2) clarification of variability and diagnostic categorization of these disorders; (3) determination of risk to relatives of probands; and (4) generation of hypotheses regarding potential etiologic mechanisms and genetic heterogeneity among the forms of early onset periodontitis.

牙周病的早期发病形式，包括青少年 (JP)和快速进行性（RP）牙周炎，已知是 家族性疾病，但病因和发病机制不是 明白了 全面而精心设计的家庭 研究提供了一种最有前途的方法， 阐明JP的潜在细胞和生化相关性 和RP，以及允许调查的模式（S） 表型的遗传和变异性。 的目的 拟议中的研究将继续组装已知最大的 收集JP和RP患者，并进行系统和 对先证者和所有可用的 亲戚 将进行中性粒细胞趋化性试验， 血清抗H. actinomycetemcomitans、伴放线菌B.牙龈炎 以及其他细菌将被确定。 可能（遗传） 异质性将通过评价人口统计学 因素和家族变异的细胞，生化， 临床参数 血清抗体反应性将与 牙周破坏的临床模式（丧失 附件）。 将进行正式的隔离分析， 测试孟德尔假说，并估计分离率或 传输概率 基因的局限性 分析，包括缺失数据和由于确定导致的偏倚， 将使用模拟研究进行调查。 的结果予以 家庭研究将提供：（1）深入了解潜在的方法， 症状前或早期诊断;（2）阐明变异性 这些疾病的诊断分类;（3）确定 先证者亲属的风险;（4）假设的产生 关于潜在的病因机制和遗传 不同类型早发性牙周炎之间的异质性。