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DOI | 10.1097/BOR.0b013e3283364483 |
Genetics of ankylosing spondylitis | |
Brown, Matthew A. | |
通讯作者 | Brown, Matthew A. |
来源期刊 | CURRENT OPINION IN RHEUMATOLOGY
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ISSN | 1040-8711 |
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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