Genetic basis of rheumatoid arthritis: a current review

Yuta Kochi; Akari Suzuki; Kazuhiko Yamamoto

doi:10.1016/j.bbrc.2014.07.085

Genetic basis of rheumatoid arthritis: a current review

Biochem Biophys Res Commun. 2014 Sep 19;452(2):254-62. doi: 10.1016/j.bbrc.2014.07.085. Epub 2014 Jul 29.

Authors

Yuta Kochi¹, Akari Suzuki², Kazuhiko Yamamoto³

Affiliations

¹ Laboratory for Autoimmune Diseases, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan. Electronic address: ykochi@src.riken.jp.
² Laboratory for Autoimmune Diseases, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
³ Laboratory for Autoimmune Diseases, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan; Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

PMID: 25078624
DOI: 10.1016/j.bbrc.2014.07.085

Abstract

Rheumatoid arthritis (RA) is one of the most common autoimmune diseases. As with other complex traits, genome-wide association studies (GWASs) have tremendously enhanced our understanding of the complex etiology of RA. In this review, we describe the genetic architecture of RA as determined through GWASs and meta-analyses. In addition, we discuss the pathologic mechanism of the disease by examining the combined findings of genetic and functional studies of individual RA-associated genes, including HLA-DRB1, PADI4, PTPN22, TNFAIP3, STAT4, and CCR6. Moreover, we briefly examine the potential use of genetic data in clinical practice in RA treatment, which represents a challenge in medical genetics in the post-GWAS era.

Keywords: Anti-citrullinated protein antibody; Genome-wide association study; HLA-DRB1; Rheumatoid arthritis.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Arthritis, Rheumatoid / epidemiology*
Arthritis, Rheumatoid / genetics*
DNA-Binding Proteins / genetics
Genome-Wide Association Study
HLA-DRB1 Chains / genetics
Humans
Hydrolases / genetics
Intracellular Signaling Peptides and Proteins / genetics
Nuclear Proteins / genetics
Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics
Protein-Arginine Deiminase Type 4
Protein-Arginine Deiminases
Receptors, CCR6 / genetics
Risk
STAT4 Transcription Factor / genetics
Tumor Necrosis Factor alpha-Induced Protein 3

Substances

CCR6 protein, human
DNA-Binding Proteins
HLA-DRB1 Chains
Intracellular Signaling Peptides and Proteins
Nuclear Proteins
Receptors, CCR6
STAT4 Transcription Factor
Hydrolases
PTPN22 protein, human
Protein Tyrosine Phosphatase, Non-Receptor Type 22
TNFAIP3 protein, human
Tumor Necrosis Factor alpha-Induced Protein 3
PADI4 protein, human
Protein-Arginine Deiminase Type 4
Protein-Arginine Deiminases