Future Directions of Genomics Research in Rheumatic Diseases

Yukinori Okada, Toshihiro Kishikawa, Saori Sakaue, Jun Hirata

Research output: Contribution to journalReview articlepeer-review

5 Scopus citations


Recent developments in human genome genotyping and sequencing technologies, such as genome-wide association studies and whole-genome sequencing analyses, have successfully identified several risk genes of rheumatic diseases. Fine-mapping studies using the HLA imputation method revealed that classical and non-classical HLA genes contribute to the risk of rheumatic diseases. Integration of human disease genomics with biological, medical, and clinical databases should contribute to the elucidation of disease pathogenicity and novel drug discovery. Disease risk genes identified by large-scale genetic studies are considered to be promising resources for novel drug discovery, including drug repositioning and biomarker microRNA screening for rheumatoid arthritis.

Original languageEnglish
Pages (from-to)481-487
Number of pages7
JournalRheumatic Disease Clinics of North America
Issue number3
StatePublished - Aug 2017
Externally publishedYes


  • Genome-wide association study
  • Human genetics
  • Human leukocyte antigen
  • Next-generation sequencing
  • Statistical genetics


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