Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population

Nat Genet. 2012 Mar 25;44(5):511-6. doi: 10.1038/ng.2231.


Rheumatoid arthritis is a common autoimmune disease characterized by chronic inflammation. We report a meta-analysis of genome-wide association studies (GWAS) in a Japanese population including 4,074 individuals with rheumatoid arthritis (cases) and 16,891 controls, followed by a replication in 5,277 rheumatoid arthritis cases and 21,684 controls. Our study identified nine loci newly associated with rheumatoid arthritis at a threshold of P < 5.0 × 10(-8), including B3GNT2, ANXA3, CSF2, CD83, NFKBIE, ARID5B, PDE2A-ARAP1, PLD4 and PTPN2. ANXA3 was also associated with susceptibility to systemic lupus erythematosus (P = 0.0040), and B3GNT2 and ARID5B were associated with Graves' disease (P = 3.5 × 10(-4) and 2.9 × 10(-4), respectively). We conducted a multi-ancestry comparative analysis with a previous meta-analysis in individuals of European descent (5,539 rheumatoid arthritis cases and 20,169 controls). This provided evidence of shared genetic risks of rheumatoid arthritis between the populations.

Publication types

  • Comparative Study
  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arthritis, Rheumatoid / epidemiology*
  • Arthritis, Rheumatoid / genetics*
  • Case-Control Studies
  • Genetic Loci*
  • Genetic Markers*
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Humans
  • Japan / epidemiology
  • Polymorphism, Single Nucleotide / genetics*


  • Genetic Markers