Genetic studies of rheumatoid arthritis

Kazuhiko Yamamoto, Yukinori Okada, Akari Suzuki, Yuta Kochi

Research output: Contribution to journalReview articlepeer-review

37 Scopus citations


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.

Original languageEnglish
Pages (from-to)410-422
Number of pages13
JournalProceedings of the Japan Academy Series B: Physical and Biological Sciences
Issue number8
StatePublished - 2015
Externally publishedYes


  • Anti-citrullinated protein antibodies (ACPA)
  • Autoimmune disease
  • Genomewide association study (GWAS)
  • Human leucocyte antigen (HLA)
  • Meta-analysis
  • Rheumatoid arthritis


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