Rheumatoid arthritis (RA) is an autoimmune chronic disorder manifesting as warm, swollen, and painful joints. Multiple immune cells are implicated in the development of RA. Previous studies demonstrated that integrating the genetic information of genome‐wide association studies (GWAS) and expression quantitative trait loci (eQTLs) is capable of identifying new disease‐risk loci and providing novel insights into the etiology of complex human disease. In this study, we conducted an integrative pathway association analysis of RA by using GWAS summary data and five immune cell types related to eQTL datasets of RA. After combining the cell‐specific eQTLs and GWAS summary of RA and performing a pathway‐enrichment analysis, we detected a group of RA‐associated pathways with common or cell‐specific enriched in the five immune cell types. 41 pathways for B cells, 33 pathways for CD4+ T cells, 27 pathways for CD8+ T cells, 39 pathways for monocyte, and 25 pathways for natural killer cells are significant in RA, among which 48% are common pathways and 32% are cell‐specific pathways. We detected a group of RA‐associated eQTL pathways related to five different immune cell types. Our findings may provide novel insights into the pathogenesis of RA.

中文翻译：

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全基因组关联研究和表达数量性状基因座数据集的综合分析确定了类风湿性关节炎的各种免疫细胞相关途径

类风湿性关节炎 (RA) 是一种自身免疫性慢性疾病，表现为关节发热、肿胀和疼痛。多种免疫细胞与 RA 的发展有关。先前的研究表明，整合全基因组关联研究 (GWAS) 和表达数量性状基因座 (eQTL) 的遗传信息能够识别新的疾病风险基因座，并为复杂人类疾病的病因学提供新的见解。在这项研究中，我们通过使用 GWAS 汇总数据和与 RA 的 eQTL 数据集相关的五种免疫细胞类型，对 RA 进行了综合途径关联分析。在结合 RA 的细胞特异性 eQTL 和 GWAS 总结并进行通路富集分析后，我们检测到一组 RA 相关通路，这些通路在五种免疫细胞类型中具有常见或细胞特异性富集。B细胞的41条通路、CD4+T细胞的33条通路、CD8+T细胞的27条通路、单核细胞的39条通路和自然杀伤细胞的25条通路在RA中是显着的，其中48%是共同通路，32%是细胞-具体途径。我们检测到一组与五种不同免疫细胞类型相关的 RA 相关 eQTL 通路。我们的发现可能为 RA 的发病机制提供新的见解。