FAMILY STUDIES OF EARLY ONSET PERIODONTITIS

早发性牙周炎的家庭研究

• 批准号: 3220753
• 负责人: JON B SUZUKI
• 金额: $ 9.18万
• 依托单位: UNIVERSITY OF MARYLAND BALTIMORE
• 依托单位国家: 美国
• 财政年份: 1985
• 资助国家: 美国
• 起止时间: 1985-04-01 至 1988-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3220753
• 关键词: chemotaxis; dental disorder diagnosis; disease /disorder proneness /risk; early diagnosis; epidemiology; gender difference; genetic disorder; human age group; human tissue; linkage mapping; neutrophil; oral health; pathologic process; periodontitis; racial /ethnic difference

The early onset forms of periodontal disease, including juvenile (JP) and rapidly progressive (RP) periodontitis, represent a major health concern. Although these disorders have been recognized for many years, and their familial nature implicated, systematic investigation of clinical manifestations and laboratory diagnostic tests have only recently been initiated. The pathogenesis of early onset periodontitis is not yet understood, and carefully designed comprehensive family studies provide the most promising approach 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 phenotypes. The goal of the proposed research is to assemble the largest group of JP and RP patients currently available, and to perform systematic and comprehensive clinical evaluations of probands and all available first-degree relatives. Neutrophil chemotaxis assays will be performed, and blood samples, collected for linkage studies, will be analyzed in collaboration with other Clinical Research Centers for Periodontal Diseases. Formal pedigree analysis will be performed to test Mendelian hypotheses, and to estimate segregation ratios or transmission probabilities. Inheritance patterns will be studied for both laboratory parameters and clinical phenotypes, taking into account complicating factors including age, age of onset, and indeterminate diagnostic categories. Simulation studies will be performed to assess the importance of missing paternal data, and sex and age factors as complications in the interpretation of the segregation analyses. Within and among family variability will be investigated, and correlations between laboratory findings and clinical manifestation determined. The results of these family studies will provide: (1) insight into potential methods of presymptomatic or early diagnosis; (2) clarification of the variability of these diseases and diagnostic categorization; (3) the determination of risk to relatives of probands; and (4) a nucleus for larger studies of 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）牙周炎代表了主要的健康问题。 虽然这些疾病已经被认识了很多年， 家族性牵连，临床系统研究 临床表现和实验室诊断测试最近才被 启动。 早发性牙周炎的发病机制尚不清楚 了解，精心设计的全面的家庭研究提供了 最有前途的方法来阐明潜在的细胞和生化 JP和RP的相关性，以及允许调查 表型的遗传方式和变异性。 拟议研究的目标是聚集最大的JP组 和RP患者目前可用，并进行系统和 对先证者和所有可用的 一级亲属 将进行中性粒细胞趋化性测定， 和血液样本，收集的连锁研究，将分析， 与其他牙周病临床研究中心合作 疾病 将进行正式的谱系分析，以检验孟德尔遗传 假设，并估计分离率或传输 概率 将研究两个实验室的遗传模式 参数和临床表型，考虑到并发症 因素包括年龄、发病年龄和不确定的诊断 类别 将进行模拟研究，以评估 缺失的父亲数据，以及性别和年龄因素作为并发症， 分离分析的解释。 家庭内部和家庭之间 将研究变异性，实验室之间的相关性 结果和临床表现确定。 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 这些疾病和诊断分类;（3）风险的确定 先证者的亲属;和（4）一个更大的病因学研究的核心 发病机制和遗传异质性之间的形式早发性 牙周炎