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

类风湿性关节炎(RA)和骨性关节炎(OA)的遗传学基础已被明确证明。全基因组关联研究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，在需要高显著水平的GWAS中，不太显著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在基因和途径中产生更多相关的关联信号。我们的目标是揭示神经内分泌免疫因子与类风湿性关节炎和骨性关节炎两种疾病之间的新的遗传关联。为此，在过去三年中招募了一大批特征良好的类风湿性关节炎和骨性关节炎患者。同时，年龄和性别匹配的对照将包括在研究队列中。基因分型将在现代平台上作为单一和多重反应进行。由于研究股FOR696的前一个资助期，由于不同项目的功能工作，确定了大量有前途的候选基因。该计划将专注于识别和验证增加类风湿关节炎和骨关节炎风险的基因，特别是与神经内分泌免疫途径有关的基因。

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.