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Functional genomics of autoimmune diseases
  1. Akari Suzuki,
  2. Matteo Maurizio Guerrini,
  3. Kazuhiko Yamamoto
  1. Laboratory for Autoimmune Diseases, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, Japan
  1. Correspondence to Dr Kazuhiko Yamamoto, Laboratory for Autoimmune Diseases, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Kanagawa, Japan; kazuhiko.yamamoto{at}


For more than a decade, genome-wide association studies have been applied to autoimmune diseases and have expanded our understanding on the pathogeneses. Genetic risk factors associated with diseases and traits are essentially causative. However, elucidation of the biological mechanism of disease from genetic factors is challenging. In fact, it is difficult to identify the causal variant among multiple variants located on the same haplotype or linkage disequilibrium block and thus the responsible biological genes remain elusive. Recently, multiple studies have revealed that the majority of risk variants locate in the non-coding region of the genome and they are the most likely to regulate gene expression such as quantitative trait loci. Enhancer, promoter and long non-coding RNA appear to be the main target mechanisms of the risk variants. In this review, we discuss functional genetics to challenge these puzzles.

  • arthritis
  • rheumatoid
  • autoimmune diseases
  • immune complex diseases
  • polymorphism
  • genetic
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  • Handling editor Josef S Smolen

  • Contributors AS and MMG carried out the experiment. AS wrote the manuscript with support from KY and MMG. KY supervised the project.

  • Funding This study was funded by Japan Society for the Promotion of Science (grant number 18H05285) and Chugai Pharmaceutical Co.

  • Competing interests KY has received grants from Chugai Pharmaceutical Co.

  • Patient and public involvement Patients and/or the public were not involved in the design, or conduct, or reporting, or dissemination plans of this research.

  • Patient consent for publication Not required.

  • Ethics approval Our study is performed in accordance with the International Conference on Harmonisation Guidelines for Good Clinical Practice and the Declaration of Helsinki, and the study protocols were approved by ethics review boards of RIKEN.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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