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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.

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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