The Genetics of Ankylosing Spondylitis and Axial Spondyloarthritis

被引：55

作者：

Robinson, Philip C. ^{[1
]}

Brown, Matthew A. ^{[1
]}

机构：

[1] Univ Queensland, Diamantina Inst, Princess Alexandra Hosp, Woolloongabba, Qld 4102, Australia

来源：

RHEUMATIC DISEASE CLINICS OF NORTH AMERICA | 2012年 / 38卷 / 03期

关键词：

Genetics; Genomics; Ankylosing spondylitis; Axial spondyloarthritis; Arthritis; HLA-B27; ERAP1; GENOME-WIDE ASSOCIATION; UNFOLDED PROTEIN RESPONSE; SUSCEPTIBILITY LOCI; ENDOPLASMIC-RETICULUM; HLA-B27; HOMOZYGOSITY; RADIOGRAPHIC SEVERITY; MULTIPLE-SCLEROSIS; TRANSGENIC RATS; DISEASE SUSCEPTIBILITY; CROHNS-DISEASE;

D O I：

10.1016/j.rdc.2012.08.018

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Ankylosing spondylitis (AS) and spondyloarthritis are strongly genetically determined. The long-standing association with HLA-B27 is well described, although the mechanism by which that association induces AS remains uncertain. Recent developments include the description of HLA-B27 tag single nucleotide polymorphisms in European and Asian populations. An increasing number of non-MHC genetic associations have been reported, which provided amongst other things the first evidence of the involvement of the IL-23 pathway in AS. The association with ERAP1 is now known to be restricted to HLA-B27 positive disease. Preliminary studies on the genetics of axial spondyloarthritis demonstrate a lower HLA-B27 carriage rate compared with AS. Studies with larger samples and including non-European ethnic groups are likely to further advance the understanding of the genetics of AS and spondyloarthritis.

引用

页码：539 / +

页数：17

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