Genetic studies of rheumatoid arthritis

Kazuhiko YAMAMOTO; Yukinori OKADA; Akari SUZUKI; Yuta KOCHI

doi:10.2183/pjab.91.410

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Genetic studies of rheumatoid arthritis

Kazuhiko YAMAMOTO , Yukinori OKADA, Akari SUZUKI, Yuta KOCHI

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Keywords: anti-citrullinated protein antibodies (ACPA), autoimmune disease, genome-wide association study (GWAS), human leucocyte antigen (HLA), meta-analysis, rheumatoid arthritis

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2015 Volume 91 Issue 8 Pages 410-422

DOI https://doi.org/10.2183/pjab.91.410

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Abstract

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.

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