Yamamoto Kazuhiko, Okada Yukinori, Suzuki Akari, Kochi Yuta
Department of Allergy and Rheumatology, Graduate School of Medicine, the University of Tokyo.
Proc Jpn Acad Ser B Phys Biol Sci. 2015;91(8):410-22. doi: 10.2183/pjab.91.410.
Rheumatoid arthritis (RA) is a common autoimmune disease that results in significant morbidity. As with other complex disorders, genome-wide association studies (GWASs) have greatly contributed to the current understanding of RA etiology. In this review, we describe the genetic configuration of RA as revealed primarily through GWASs and their meta-analyses. In addition, we discuss the pathologic mechanisms of RA as suggested by the findings of genetic and functional studies of individual RA-associated genes, including HLA-DRB1, PADI4, PTPN22, CCR6 and FCRL3, and the potential use of genetic information for RA treatment in clinical practice.
类风湿关节炎（RA）是一种常见的自身免疫性疾病，会导致严重的发病率。与其他复杂疾病一样，全基因组关联研究（GWAS）极大地促进了目前对RA病因的理解。在本综述中，我们描述了主要通过GWAS及其荟萃分析揭示的RA的遗传结构。此外，我们讨论了个体RA相关基因（包括HLA-DRB1、PADI4、PTPN22、CCR6和FCRL3）的遗传和功能研究结果所提示的RA病理机制，以及遗传信息在临床实践中用于RA治疗的潜在用途。
