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细胞毒性T淋巴细胞相关抗原4单核苷酸多态性(CT60A/G、-1722T/C、-1661G/A和-318C/T)与系统性红斑狼疮:一项荟萃分析

CTLA-4 SNPs (CT60A/G, -1722T/C, -1661G/A, and -318C/T) and systemic lupus erythematosus: a meta-analysis.

作者信息

Zhu Yun, Wang Jing, Feng Xuebing

机构信息

Department of Rheumatology and Immunology, Drum Tower Hospital, Nanjing Medical University, Nanjing, Jiangsu, PR China.

Department of Hematology, Drum Tower Hospital, Nanjing, Jiangsu, PR China.

出版信息

Crit Rev Eukaryot Gene Expr. 2014;24(2):89-100. doi: 10.1615/critreveukaryotgeneexpr.2014007884.

DOI:10.1615/critreveukaryotgeneexpr.2014007884
PMID:24940764
Abstract

In this meta-analysis, we investigated the association between CTLA-4 polymorphisms (CT60A/G, -1722T/C, -1661G/A, and -318C/T) and SLE susceptibility. Data were extracted independently by two reviewers. The odds ratios (ORs) with 95% confidence intervals (CIs) were calculated in fixed or random effects models. Seventeen studies involving of 3931 cases and 4619 controls were identified. Significant association of promoter -1722T/C polymorphism and SLE was observed for TT vs. CC (OR=1.63, 95% CI 1.63-2. 30, P<0.05) in the overall study population and in the Asians subgroups (OR=2. 18, 95% CI 1.70-2. 81, P<0.05); the OR for the allele T vs. C in Asians was 1.66 (95% CI 1.33-2. 07, P<0.05). For the CT60A/G polymorphism, significant association was observed for AA vs. AG (OR=0.64, 95% CI 0.46-0.88, P<0.05) in Asians. These results suggest that -1722T/C and CT60A/G polymorphisms in CTLA-4 are associated with SLE, particularly in Asians.

摘要

在这项荟萃分析中,我们研究了细胞毒性T淋巴细胞相关抗原4(CTLA-4)基因多态性(CT60A/G、-1722T/C、-1661G/A和-318C/T)与系统性红斑狼疮(SLE)易感性之间的关联。两名审阅者独立提取数据。采用固定效应模型或随机效应模型计算比值比(OR)及95%置信区间(CI)。共纳入17项研究,涉及3931例病例和4619例对照。在总体研究人群和亚洲亚组中,观察到启动子-1722T/C多态性与SLE存在显著关联,TT与CC相比(OR=1.63,95%CI 1.63-2.30,P<0.05);亚洲亚组中,等位基因T与C相比的OR为1.66(95%CI 1.33-2.07,P<0.05)。对于CT60A/G多态性,在亚洲人中观察到AA与AG相比存在显著关联(OR=0.64,95%CI 0.46-0.88,P<0.05)。这些结果表明,CTLA-4基因中的-1722T/C和CT60A/G多态性与SLE相关,尤其是在亚洲人中。

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Lupus susceptibility region containing CTLA4 rs17268364 functionally reduces CTLA4 expression by binding EWSR1 and correlates IFN-α signature.狼疮易感性区域包含 CTLA4 rs17268364,通过结合 EWSR1 功能降低 CTLA4 表达,并与 IFN-α 特征相关。
Arthritis Res Ther. 2021 Nov 4;23(1):279. doi: 10.1186/s13075-021-02664-y.
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Association of CD40 polymorphisms and haplotype with risk of systemic lupus erythematosus.
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Rheumatol Int. 2016 Jan;36(1):45-52. doi: 10.1007/s00296-015-3345-7. Epub 2015 Aug 21.