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Genetics of rheumatoid arthritis: what have we learned?

Abstract：

:Rheumatoid arthritis (RA) is a chronic autoimmune disease affecting 0.5-1% of the population worldwide. The disease has a heterogeneous character, including clinical subsets of anti-citrullinated protein antibody (ACPA)-positive and APCA-negative disease. Although the pathogenesis of RA is poorly understood, progress has been made in identifying genetic factors that contribute to the disease. The most important genetic risk factor for RA is found in the human leukocyte antigen (HLA) locus. In particular, the HLA molecules carrying the amino acid sequence QKRAA, QRRAA, or RRRAA at positions 70-74 of the DRβ1 chain are associated with the disease. The HLA molecules carrying these "shared epitope" sequences only predispose for ACPA-positive disease. More than two decades after the discovery of HLA-DRB1 as a genetic risk factor, the second genetic risk factor for RA was identified in 2003. The introduction of new techniques, such as methods to perform genome-wide association has led to the identification of more than 20 additional genetic risk factors within the last 4 years, with most of these factors being located near genes implicated in immunological pathways. These findings underscore the role of the immune system in RA pathogenesis and may provide valuable insight into the specific pathways that cause RA.

journal_name

Immunogenetics

journal_title

Immunogenetics

authors

Bax M,van Heemst J,Huizinga TW,Toes RE

doi

10.1007/s00251-011-0528-6

subject

Has Abstract

pub_date

2011-08-01 00:00:00

pages

459-66

issue

8

eissn

0093-7711

issn

1432-1211

journal_volume

63

pub_type

杂志文章,评审

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