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FoxP3 rs3761548 多态性预测自身免疫性疾病易感性:荟萃分析。

FoxP3 rs3761548 polymorphism predicts autoimmune disease susceptibility: a meta-analysis.

机构信息

Department of Respiratory Medicine, West China Hospital of Sichuan University, Chengdu 610041, China.

出版信息

Hum Immunol. 2013 Dec;74(12):1665-71. doi: 10.1016/j.humimm.2013.08.270. Epub 2013 Aug 28.

DOI:10.1016/j.humimm.2013.08.270
PMID:23993983
Abstract

BACKGROUND AND AIMS

Autoimmune diseases (ADs) are associated with loss of self-tolerance leading to immune-mediated destruction of host tissues and organs. FoxP3 polymorphism (-3279 A/C, rs3761548) was shown to associate with AD susceptibility, but the results were inconsistent. This study performed a meta-analysis to investigate the FoxP3 -3279 A/C polymorphism for AD susceptibility.

METHODS

A total of eight published case-control studies, including 1844 cases and 1857 controls were retrieved from the PubMed database for the meta-analysis. Heterogeneity was assessed with a standard Q-statistic test and I(2) test. Crude pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to estimate the FoxP3 polymorphism and AD risk according to the random-effective model and fixed-effective model.

RESULTS

A significant relationship between FoxP3 -3279 A/C gene polymorphism and ADs was found under the allelic (OR: 1.477, 95% CI: 1.326-1.645, P = 0.000), homozygous (OR: 2.094, 95% CI: 1.390-3.153, P = 0.000), recessive (OR: 1.804, 95% CI: 1.083-3.008, P = 0.024), dominant (OR: 1.323, 95% CI: 1.154-1.516, P = 0.000), and additive (OR: 1.516, 95% CI: 1.360-1.689, P = 0.000) genetic models. However, there was no significant association between FoxP3 -3279 A/C polymorphism and ADs under the heterozygous genetic model (OR: 1.202, 95% CI: 0.899-1.606, P = 0.215).

CONCLUSION

FoxP3 -3279 A/C polymorphism may influence AD risk, especially, the A allele variant carriers of FoxP3 -3279 A/C polymorphism definitively associated with AD susceptibility.

摘要

背景与目的

自身免疫性疾病(AD)与自身耐受性丧失有关,导致免疫介导的宿主组织和器官损伤。FoxP3 多态性(-3279A/C,rs3761548)与 AD 易感性相关,但结果不一致。本研究进行了荟萃分析,以研究 FoxP3-3279A/C 多态性与 AD 易感性的关系。

方法

从 PubMed 数据库中检索了 8 项已发表的病例对照研究,包括 1844 例病例和 1857 例对照,进行荟萃分析。使用标准 Q 统计量检验和 I²检验评估异质性。根据随机效应模型和固定效应模型,使用粗合并优势比(OR)及其 95%置信区间(CI)来估计 FoxP3 多态性与 AD 风险的关系。

结果

在等位基因(OR:1.477,95%CI:1.326-1.645,P=0.000)、纯合子(OR:2.094,95%CI:1.390-3.153,P=0.000)、隐性(OR:1.804,95%CI:1.083-3.008,P=0.024)、显性(OR:1.323,95%CI:1.154-1.516,P=0.000)和加性(OR:1.516,95%CI:1.360-1.689,P=0.000)遗传模型中,FoxP3-3279A/C 基因多态性与 AD 之间存在显著相关性。然而,在杂合子遗传模型中,FoxP3-3279A/C 多态性与 AD 之间无显著相关性(OR:1.202,95%CI:0.899-1.606,P=0.215)。

结论

FoxP3-3279A/C 多态性可能影响 AD 风险,特别是 FoxP3-3279A/C 多态性的 A 等位基因变异携带者与 AD 易感性明确相关。

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