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中国强直性脊柱炎患者的免疫遗传学研究:近期是否发现了特定基因?

Immunogenetic study in Chinese population with ankylosing spondylitis: are there specific genes recently disclosed?

作者信息

Zhai Jiayu, Rong Ju, Li Qiuxia, Gu Jieruo

机构信息

Department of Rheumatology and Immunology, The Third Affiliated Hospital of Sun Yat-Sen University, 600 Tianhe Road, Guangzhou, Guangdong 510630, China.

出版信息

Clin Dev Immunol. 2013;2013:419357. doi: 10.1155/2013/419357. Epub 2013 Jan 16.

DOI:10.1155/2013/419357
PMID:23401698
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3562651/
Abstract

PURPOSE

Ankylosing spondylitis (AS) is a systemic, autoimmune disease resulting in the destruction of the affected joints. Over the past 5 years, several new genes or genetic regions associated with AS have been identified in the Chinese population. This paper aims to discuss the major findings and related potential mechanisms of these studies in our population.

RECENT FINDINGS

In recent years, due to the rapid advances in computational genetics and technology, there has been an increasing list of well-validated genes or genetic regions associated with AS susceptibility. So far, several genes or genetic regions have now been reported in the Han ethnic Chinese population, containing the major histocompatibility complex (MHC), ERAP1, IL-23R, 12q12, 2p15, 5q14.3, and so on. Different hypotheses for disease mechanisms have been investigated on the basis of the functional studies of these genes or genetic regions.

SUMMARY

This paper tries to summarize the association of several candidate genes with risk for AS in the Han ethnic Chinese population and aims to identify the novel inflammatory pathways and provide potential strategies for better therapies.

摘要

目的

强直性脊柱炎(AS)是一种全身性自身免疫性疾病,可导致受累关节破坏。在过去5年中,中国人群中已鉴定出几个与AS相关的新基因或基因区域。本文旨在探讨这些研究在我国人群中的主要发现及相关潜在机制。

最新发现

近年来,由于计算遗传学和技术的快速发展,与AS易感性相关的经过充分验证的基因或基因区域越来越多。到目前为止,汉族人群中已报道了几个基因或基因区域,包括主要组织相容性复合体(MHC)、内质网氨肽酶1(ERAP1)、白细胞介素23受体(IL-23R)、12q12、2p15、5q14.3等。基于这些基因或基因区域的功能研究,对疾病机制的不同假设进行了探讨。

总结

本文试图总结汉族人群中几个候选基因与AS风险的关联,旨在识别新的炎症途径并提供更好治疗的潜在策略。

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Clin Dev Immunol. 2013;2013:419357. doi: 10.1155/2013/419357. Epub 2013 Jan 16.
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本文引用的文献

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Association of FCRL4 polymorphisms on disease susceptibility and severity of ankylosing spondylitis in Chinese Han population.FCRL4 多态性与中国汉族人群强直性脊柱炎易感性及严重程度的相关性。
Clin Rheumatol. 2012 Oct;31(10):1449-54. doi: 10.1007/s10067-012-2028-y. Epub 2012 Jul 10.
2
The FCGR2B rs10917661 polymorphism may confer susceptibility to ankylosing spondylitis in Han Chinese: a case-control study.FCGR2B rs10917661 多态性可能与汉族人群的强直性脊柱炎易感性相关:一项病例对照研究。
Scand J Rheumatol. 2012 May;41(3):219-22. doi: 10.3109/03009742.2011.625972. Epub 2012 Mar 15.
3
Endoplasmic reticulum aminopeptidase 1 (ERAP1) exhibits functionally significant interaction with HLA-B27 and relates to subtype specificity in ankylosing spondylitis.内质网氨肽酶 1(ERAP1)与 HLA-B27 具有功能显著的相互作用,并与强直性脊柱炎的亚型特异性相关。
Ann Rheum Dis. 2012 Apr;71(4):589-95. doi: 10.1136/annrheumdis-2011-200347. Epub 2012 Feb 21.
4
Is there a higher genetic load of susceptibility loci in familial ankylosing spondylitis?家族性强直性脊柱炎中易感基因座的遗传负荷是否更高?
Arthritis Care Res (Hoboken). 2012 May;64(5):780-4. doi: 10.1002/acr.21601.
5
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.一项全基因组关联研究在汉族人群中发现了强直性脊柱炎的新易感基因位点。
Nat Genet. 2011 Dec 4;44(1):73-7. doi: 10.1038/ng.1005.
6
Associations of IL-23R polymorphisms with ankylosing spondylitis in East Asian population: a new case-control study and a meta-analysis.IL-23R 多态性与东亚人群中强直性脊柱炎的相关性:一项新的病例对照研究和荟萃分析。
Int J Immunogenet. 2012 Apr;39(2):126-30. doi: 10.1111/j.1744-313X.2011.01067.x. Epub 2011 Dec 1.
7
Association of IL-12B genetic polymorphism with the susceptibility and disease severity of ankylosing spondylitis.白细胞介素-12B 基因多态性与强直性脊柱炎易感性及疾病严重程度的关联。
J Rheumatol. 2012 Jan;39(1):135-40. doi: 10.3899/jrheum.110613. Epub 2011 Nov 1.
8
ERAP1 polymorphisms and haplotypes are associated with ankylosing spondylitis susceptibility and functional severity in a Spanish population.ERAP1 多态性和单倍型与西班牙人群中强直性脊柱炎的易感性和功能严重程度相关。
Rheumatology (Oxford). 2011 Nov;50(11):1969-75. doi: 10.1093/rheumatology/ker229. Epub 2011 Aug 24.
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Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.ERAP1 与 HLA-B27 在强直性脊柱炎中的相互作用提示肽处理在 HLA-B27 疾病易感性机制中的作用。
Nat Genet. 2011 Jul 10;43(8):761-7. doi: 10.1038/ng.873.
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Association of ORAI1 haplotypes with the risk of HLA-B27 positive ankylosing spondylitis.ORAI1 单倍型与 HLA-B27 阳性强直性脊柱炎风险的关联。
PLoS One. 2011;6(6):e20426. doi: 10.1371/journal.pone.0020426. Epub 2011 Jun 1.