Arid
DOI10.1097/BOR.0b013e3283364483
Genetics of ankylosing spondylitis
Brown, Matthew A.
通讯作者Brown, Matthew A.
来源期刊CURRENT OPINION IN RHEUMATOLOGY
ISSN1040-8711
出版年2010
卷号22期号:2页码:126-132
英文摘要

Purpose of review


Over the past 3 years, several new genes and gene deserts have been identified that are associated with ankylosing spondylitis (AS). The purpose of this review is to discuss the major findings of these studies, and the answers they provide and questions they raise about the pathogenesis of this common condition.


Recent findings


Five genes/genetic regions have now definitively been associated with AS [the major histocompatibility complex (MHC), IL23R, ERAP1, 2p15 and 21q22]. Strong evidence to support association with the disease has been demonstrated for the genes IL1R2, ANTXR2, TNFSF15, TNFR1 and a region on chromosome 16q including the gene TRADD. There is an overrepresentation of genes involved in Th17 lymphocyte differentiation/activation among genes associated with AS and the related diseases inflammatory bowel disease and psoriasis, pointing strongly to this pathway as playing a major causative role in the disease. Increasing information about differential association of HLA-B27 subtypes with disease suggests a hierarchy of strength of association of those alleles with AS, providing a useful test as to the validity of different potential mechanisms of association of HLA-B27 with AS. The mechanism underlying the association of the gene deserts, 2p15 and 21q22, suggests the involvement of noncoding RNA in AS etiopathogenesis.


Summary


The increasing list of genes identified as being definitely involved in AS provides a useful platform for hypothesis-driven research in the field, providing a potential alternative route to determining the underlying mechanisms involved in the disease to research focusing on HLA-B27 alone.


英文关键词ERAP1 genetics IL23R KIR major histocompatibility complex
类型Review
语种英语
国家Australia
收录类别SCI-E
WOS记录号WOS:000274521200003
WOS关键词NECROSIS-FACTOR RECEPTOR ; GENOME-WIDE ASSOCIATION ; HYPER-IGE SYNDROME ; CROHNS-DISEASE ; SUSCEPTIBILITY LOCI ; HLA-B27 POLYMORPHISM ; POPULATION ; IL23R ; VARIANTS ; GENES
WOS类目Rheumatology
WOS研究方向Rheumatology
资源类型期刊论文
条目标识符http://119.78.100.177/qdio/handle/2XILL650/163786
作者单位Univ Queensland, Diamantina Inst Canc Immunol & Metab Med, Princess Alexandra Hosp, Brisbane, Qld, Australia
推荐引用方式
GB/T 7714
Brown, Matthew A.. Genetics of ankylosing spondylitis[J],2010,22(2):126-132.
APA Brown, Matthew A..(2010).Genetics of ankylosing spondylitis.CURRENT OPINION IN RHEUMATOLOGY,22(2),126-132.
MLA Brown, Matthew A.."Genetics of ankylosing spondylitis".CURRENT OPINION IN RHEUMATOLOGY 22.2(2010):126-132.
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