GENETIC ANALYSIS OF JUVENILE IDIOPATHIC ARTHRITIS

幼年特发性关节炎的遗传分析

• 批准号: 7604959
• 负责人: SAMPATH PRAHALAD
• 金额: $ 6.08万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-03-01 至 2008-02-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7604959
• 关键词: Adolescent; Affect; Africa; Arthritis; Asia; Childhood; Chronic Childhood Arthritis; Computer Retrieval of Information on Scientific Projects Database; Data; Databases; Europe; Funding; Genes; Genetic Variation; Grant; Haplotypes; Individual; Institutes; Institution; Ligands; Musculoskeletal; Parents; Pathogenesis; Population; Population Study; Predisposition; Registries; Research; Research Personnel; Resources; Rheumatism; Rheumatoid Arthritis; Single Nucleotide Polymorphism; Source; Structure; T cell regulation; T-Lymphocyte; Testing; Treatment outcome; United States National Institutes of Health; Variant; cohort; genetic analysis; genetic variant; proband; receptor; skin disorder

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. Hypothesis: Genetic variation in genes encoding T-cell regulatory molecules contributes to variation in juvenile rheumatoid arthritis (JRA) susceptibility, pathogenesis and treatment outcomes. Specific Aim 1. Analyze genetic diversity in genes encoding ligand-receptor pairs involved in T-cell regulation. Eighteen genes will be re-sequenced in a population of 110 individuals from Africa, Asia, and Europe. These data will be used to identify single nucleotide polymorphisms (SNPs), infer haplotypes, and estimate the evolutionary structure of haplotypes. Individual SNPs and haplotypes will subsequently be used for association and linkage studies. Specific Aim 2. Test for association and linkage between genetic variants identified in specific aim 1 and susceptibility to Juvenile rheumatoid arthritis (JRA) and/or variable expressivity of JRA. These analyses will be performed in 3 study populations: (1) a cohort of 140 affected sib-pairs (ASPs) with JRA and their parents from a JRA registry in Cincinnati, sponsored by the National Institute of Arthritis, and Musculoskeletal and Skin diseases (NIAMS), (2) a cohort of 500 singletons with JRA and their parents (trios), and (3) trios ascertained from more than 700 probands with JRA in the Intermountain States Database of Childhood Rheumatic Diseases.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 假设：编码T细胞调节分子的基因的遗传变异有助于少年类风湿关节炎（JRA）易感性，发病机理和治疗结果的变异。 具体目的1。分析编码参与T细胞调节的配体受体对的基因中的遗传多样性。来自非洲，亚洲和欧洲的110个人的人口将重新列出18个基因。这些数据将用于鉴定单核苷酸多态性（SNP），推断单倍型，并估计单倍型的进化结构。 随后，单个SNP和单倍型将用于关联和链接研究。 特定目标2。在特定目标1中鉴定出的遗传变异与对少年类风湿关节炎（JRA）（JRA）和/或JRA的可变表达性的敏感性之间的关联和联系。 这些分析将在3个研究人群中进行：（1）由辛辛那提（Cincinnati）的JRA注册表与JRA及其父母组成的140个同伙，由国家关节炎研究所，以及肌肉骨骼和皮肤疾病（NIAMS）（NIAMS）（2）与500 SIRPHORT的JRA研究所一起赞助，并（3）（3）在山间流风湿病的数据库中从700多个可能的jra确定。