A GENETIC RISK PROFILE IN LONGITUDINAL SYSTEMIC LUPUS ERYTHEMATOSES COHORTS

纵向系统性红斑狼疮队列的遗传风险概况

• 批准号: 7376821
• 负责人: Rosalind Ramsey-Goldman
• 金额: $ 4.81万
• 依托单位: NORTHWESTERN UNIVERSITY AT CHICAGO
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-12-01 至 2006-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7376821
• 关键词: GENETIC; RISK; PROFILE; LONGITUDINAL; SYSTEMIC

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Patients with autoimmune disease may have certain proteins in their circulation which may be an important factor in the development of disease. These proteins can interact with white blood cells and this interaction may cause damage to multiple tissues and organs. There is some evidence that inherited factors (genes) may contribute to the development of autoimmune disease. The three aims of the research study are: 1) Establish a multi-center common core database of systemic lupus erythematosus (SLE) patients from multiple ethnicities (profile cohorts) comprised of established patients who are already in local cohorts as well as new patients to be recruited; 2) Assess the ability of chromosome 1 genes (q21-32) to predict disease phenotype [renal, cardiovascular, pulmonary, and central nervous system (CNS) involvement] in this profile cohort of SLE patients; and 3) Establish a core set of trio families (lupus patients and both biological parents) and healthy controls to confirm and narrow the identification of candidate regions and genes in SLE. The first two goals will be accomplished through a longitudinal study of 700 SLE patients. The third goal will be accomplished through a study on 350 trio families (lupus patients and both biological patients). There will be an additional cohort (called CASSLE) which will include 800 lupus patients with any disease duration, as well as 800 controls. Each control will be matched to a case by race, age, and gender. The procedures will be the same as in the PROFILE cohort, except that the participants will only have one study visit. These aims will serve to create the largest number of lupus patients in whom meticulously gathered data will be available to study the genetics of lupus and the relative contributions of genetics (versus other factors) to disease phenotype. The Chicago cohort aims to provide 300 PROFILE/CASSLE patients and 50 TRIO families as well as 200 matched Controls for lupus patients.

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。自身免疫性疾病患者的血液循环中可能含有某些蛋白质，这可能是疾病发展的重要因素。这些蛋白质可以与白细胞相互作用，这种相互作用可能会对多个组织和器官造成损害。有一些证据表明，遗传因素（基因）可能有助于自身免疫性疾病的发展。该研究的三个目的是：1)建立一个多种族系统性红斑狼疮（SLE）患者的多中心共同核心数据库（概况队列），该数据库由已经在当地队列中的已建立的患者以及待招募的新患者组成；2)评估1号染色体基因（q21-32）预测SLE患者表型[肾脏、心血管、肺和中枢神经系统（CNS）受累]的能力；3)建立一组核心的三人家族（狼疮患者及其亲生父母）和健康对照，以确认和缩小SLE候选区域和基因的鉴定范围。前两个目标将通过对700例SLE患者的纵向研究来实现。第三个目标将通过对350个三方家庭（狼疮患者和两个生物学患者）的研究来实现。将有一个额外的队列（称为CASSLE），其中将包括800名狼疮患者，任何疾病持续时间，以及800名对照。每个控件将按种族、年龄和性别与一个病例匹配。程序将与PROFILE队列相同，除了参与者将只有一次研究访问。这些目标将有助于创造最多数量的狼疮患者，精心收集的数据将可用于研究狼疮的遗传学和遗传学（与其他因素相比）对疾病表型的相对贡献。芝加哥队列的目标是提供300名PROFILE/CASSLE患者和50个TRIO家庭，以及200名匹配的狼疮患者对照。