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Genetic basis of rheumatoid arthritis: A current review
Authors:Yuta Kochi  Akari Suzuki  Kazuhiko Yamamoto
Affiliation:1. Laboratory for Autoimmune Diseases, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan;2. Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
Abstract:Rheumatoid arthritis (RA) is one of the most common autoimmune diseases. As with other complex traits, genome-wide association studies (GWASs) have tremendously enhanced our understanding of the complex etiology of RA. In this review, we describe the genetic architecture of RA as determined through GWASs and meta-analyses. In addition, we discuss the pathologic mechanism of the disease by examining the combined findings of genetic and functional studies of individual RA-associated genes, including HLA-DRB1, PADI4, PTPN22, TNFAIP3, STAT4, and CCR6. Moreover, we briefly examine the potential use of genetic data in clinical practice in RA treatment, which represents a challenge in medical genetics in the post-GWAS era.
Keywords:Rheumatoid arthritis   Genome-wide association study   HLA-DRB1   Anti-citrullinated protein antibody
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