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在中国汉族人群中,信号转导和转录激活因子4(STAT4)的基因变异与强直性脊柱炎的易感性和严重程度相关。

Genetic variants of STAT4 are associated with ankylosing spondylitis susceptibility and severity in a Chinese Han population.

作者信息

Liu Zhixiang, Zhang Peisen, Dong Jie

机构信息

Department of Nuclear Medicine, The Hospital Affiliated of Weifang Medical University Kuiwen Region 261031, Weifang City, Shandong Province, China.

出版信息

Int J Clin Exp Med. 2014 Dec 15;7(12):5877-81. eCollection 2014.

PMID:25664124
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4307571/
Abstract

OBJECTIVE

Genetic factors play an important role in ankylosing spondylitis (AS) etiology and signal transducer and activator of transcription 4 (STAT4) gene polymorphisms may be involved. The aim of this study was to test whether STAT4 variants were associated with susceptibility to AS in a Chinese population.

METHODS

A total of 175 subjects who were diagnosed as AS and 249 healthy age-matched controls were enrolled in the present study. The rs7574865 G/T SNP in STAT4 gene was genotyped in all the subjects. The SPSS software was used to investigate the association between the rs7574865 genotypes and AS susceptibility or severity.

RESULTS

Rs7574865 G/T was found to be significantly associated with increased risk and severity of AS.

CONCLUSION

Our data demonstrated the STAT4 rs7574865 G/T SNP was significantly associated with increased AS susceptibility and severity in Chinese Han Population.

摘要

目的

遗传因素在强直性脊柱炎(AS)病因中起重要作用,信号转导和转录激活因子4(STAT4)基因多态性可能与之相关。本研究旨在检测在中国人群中STAT4基因变异是否与AS易感性相关。

方法

本研究共纳入175例诊断为AS的患者和249例年龄匹配的健康对照。对所有受试者的STAT4基因rs7574865 G/T单核苷酸多态性进行基因分型。使用SPSS软件研究rs7574865基因型与AS易感性或严重程度之间的关联。

结果

发现rs7574865 G/T与AS风险增加和严重程度显著相关。

结论

我们的数据表明,在中国汉族人群中,STAT4 rs7574865 G/T单核苷酸多态性与AS易感性增加和严重程度显著相关。

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本文引用的文献

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Association of STAT4 gene polymorphism with increased susceptibility of rheumatoid arthritis in a northern Chinese Han subpopulation.STAT4 基因多态性与中国北方汉族人群类风湿关节炎易感性增加的关联。
Int J Rheum Dis. 2013 Apr;16(2):178-84. doi: 10.1111/1756-185X.12093.
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Association between polymorphism in STAT4 gene and risk of rheumatoid arthritis: a meta-analysis.STAT4 基因多态性与类风湿关节炎风险的关联:一项荟萃分析。
Hum Immunol. 2013 May;74(5):586-92. doi: 10.1016/j.humimm.2012.11.033. Epub 2013 Jan 19.
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Influence of TRAF1/C5 and STAT4 genes polymorphisms on susceptibility and severity of rheumatoid arthritis in Egyptian population.TRAF1/C5 和 STAT4 基因多态性对埃及人群类风湿关节炎易感性和严重程度的影响。
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Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.全基因组关联研究发现强直性脊柱炎的非 MHC 易感基因座。
Nat Genet. 2010 Feb;42(2):123-7. doi: 10.1038/ng.513. Epub 2010 Jan 10.
5
Cutting edge: autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo.前沿:STAT4的自身免疫病风险变异体使狼疮患者在体内对α干扰素的敏感性增加。
J Immunol. 2009 Jan 1;182(1):34-8. doi: 10.4049/jimmunol.182.1.34.
6
STAT4 associates with systemic lupus erythematosus through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk.信号转导和转录激活因子4(STAT4)通过两种独立效应与系统性红斑狼疮相关,这两种效应与基因表达相关,并与干扰素调节因子5(IRF5)协同作用增加患病风险。
Ann Rheum Dis. 2009 Nov;68(11):1746-53. doi: 10.1136/ard.2008.097642. Epub 2008 Nov 19.
7
Association of a TRAF1 and a STAT4 gene polymorphism with increased risk for rheumatoid arthritis in a genetically homogeneous population.在一个基因同质人群中,TRAF1和STAT4基因多态性与类风湿关节炎风险增加的关联。
Hum Immunol. 2008 Sep;69(9):567-71. doi: 10.1016/j.humimm.2008.06.006. Epub 2008 Jul 14.
8
A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5.系统性红斑狼疮的 STAT4 风险单倍型过度表达,与抗双链 DNA 相关,并与 IRF5 的两个风险等位基因表现出累加效应。
Hum Mol Genet. 2008 Sep 15;17(18):2868-76. doi: 10.1093/hmg/ddn184. Epub 2008 Jun 25.
9
Association of STAT4 with rheumatoid arthritis: a replication study in three European populations.STAT4与类风湿性关节炎的关联:在三个欧洲人群中的重复研究。
Arthritis Rheum. 2008 Jul;58(7):1974-80. doi: 10.1002/art.23549.
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Interleukin-17 in fashion, at last: ten years after its description, its cellular source has been identified.白细胞介素-17终于流行起来了:在其被描述十年后,其细胞来源已被确定。
Arthritis Rheum. 2007 Jul;56(7):2111-5. doi: 10.1002/art.22733.