CORE--CLINICAL

核心--临床

• 批准号: 6631286
• 负责人: MICHAEL C IANNUZZI
• 金额: $ 23.88万
• 依托单位: HENRY FORD HEALTH SYSTEM
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-05-01 至 2003-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6631286
• 关键词: African American; biopsy; clinical research; family genetics; gene environment interaction; genetic disorder diagnosis; genetic susceptibility; human genetic material tag; human subject; linkage mapping; phenotype; questionnaires; sarcoidosis; siblings

Sarcoidosis is a systemic granulomatous disease of unknown etiology that likely involves exposure toms environmental agent in a genetically susceptible host. We propose to identify sarcoidosis susceptibility genes and determine how these genes and environmental risk factors interact to cause sarcoidosis. This will be accomplished by organizing a multicenter consortium to recruit an adequate sample of sarcoidosis families for analysis. We plan to use affected sibling pair linkage analysis to scan the genome for linked chromosomal regions, transmission disequilibrium testing to evaluate candidate genes in those regions with evidence for linkage and an environmental questionnaire to collect data to test for possible interactions of susceptibility genes with exogenous risk factors.

结节病是一种病因不明的全身性肉芽肿性疾病，可能与遗传易感宿主接触环境因素有关。我们建议鉴定结节病易感基因，并确定这些基因和环境风险因素如何相互作用导致结节病。这将通过组织一个多中心联盟来招募足够的结节病家族样本进行分析来实现。我们计划使用受影响的兄弟姐妹配对连锁分析来扫描基因组中的连锁染色体区域，使用传递不平衡测试来评估这些区域中具有连锁证据的候选基因，并使用环境调查问卷来收集数据以测试易感基因与外源风险之间可能的相互作用因素。