Genetic association studies with neuroendocrine immune parameters in rheumatoid arthritis and osteoarthritis

类风湿性关节炎和骨关节炎神经内分泌免疫参数的遗传关联研究

• 批准号: 163658209
• 负责人: Privatdozent Dr. Klaus Stark
• 金额: --
• 依托单位: Lehrstuhl für Genetische Epidemiologie
• 依托单位国家: 德国
• 项目类别: Research Units
• 财政年份: 2010
• 资助国家: 德国
• 起止时间: 2009-12-31 至 2012-12-31
• 项目状态: 已结题
• 来源: https://gepris.dfg.de/gepris/projekt/163658209?language=en
• 关键词: Genetic; association; studies; neuroendocrine; immune

The genetic basis of rheumatoid arthritis (RA) and osteoarthritis (OA) has been unequivocally demonstrated. Genome-wide associations studies (GWAS) have uncovered known and novel strong candidate genes with genome-wide significance. However, less prominent but important association signals are disregarded in GWAS where high significance levels are required. Focused genetic analysis based on biological concepts will lead to more relevant association signals in genes and pathways. Our goal is to unravel new genetic associations of neuroendocrine immune factors and the two diseases of RA and OA. For this purpose, a large cohort of wellcharacterized RA and OA patients was recruited in the last three years. In parallel, age and gender matched controls will be included in the study cohort. Genotyping will be carried out on modern platforms as single and multiplex reactions. As a result of the former funding period of the Research Unit FOR696, a large number of promising candidate genes were identified as a consequence of functional work of the different projects. The program will focus on identification and validation of genes that increase the risk of RA and OA, especially with respect to neuroendocrine immune pathways.

类风湿性关节炎（RA）和骨关节炎（OA）的遗传基础已被明确证明。全基因组关联研究（GWAS）已经发现了具有全基因组意义的已知和新的强候选基因。然而，在需要高显著性水平的GWAS中，不太突出但重要的关联信号被忽略。基于生物学概念的集中遗传分析将导致基因和通路中更相关的关联信号。我们的目标是揭示神经内分泌免疫因子与类风湿关节炎和骨关节炎这两种疾病之间的新的遗传关联。为此，在过去三年中招募了大量特征明确的RA和OA患者。同时，年龄和性别匹配的对照将纳入研究队列。基因分型将在现代平台上作为单一和多重反应进行。由于研究单位FOR696的前一个资助期，大量有前途的候选基因被确定为不同项目的功能工作的结果。该计划将侧重于识别和验证增加RA和OA风险的基因，特别是在神经内分泌免疫途径方面。