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FOXP3基因rs3761548和rs2232365多态性与多发性硬化易感性的Meta分析。

Meta-analysis of FOXP3 gene rs3761548 and rs2232365 polymorphism and multiple sclerosis susceptibility.

作者信息

Zhang Yijian, Zhang Junxin, Liu Hao, He Fan, Chen Angela, Yang Huilin, Pi Bin

机构信息

Department of Orthopedics, The First Affiliated Hospital of Soochow University.

Orthopedic Institute, Soochow University, Suzhou, China.

出版信息

Medicine (Baltimore). 2019 Sep;98(38):e17224. doi: 10.1097/MD.0000000000017224.

Abstract

BACKGROUND

Multiple sclerosis (MS) is a common autoimmune disease of the central nervous system (CNS), and is associated with genetic factors. FOXP3 gene polymorphism has been reported as the risk factor for MS, however, previous studies have showed conflicting results. The purpose of this study is to investigate the association between FOXP3 gene polymorphism and the susceptibility to MS.

METHODS

Pubmed, Embase, library of Cochrane, and Web of Science were used to search the eligible articles from January 1980 up to October 2018. The odds ratio (ORs) and its 95% confidence intervals (CI) were used to evaluate the strength of association. Allele model, homozygote model, heterozygote model, dominant model, and recessive model were used to evaluate the association between FOXP3 gene polymorphism and MS.

RESULTS

A total of 5 studies contained 1276 MS patients and 1447 controls (for rs3761548) and 600 MS patients and 640 controls (for rs2232365) were enrolled in this meta-analysis. The association showed significant differences in allele and dominant model for rs3761548 polymorphism. In addition, a clear tendency to significance was detected in homozygote and recessive model for rs3761548 (P = .052). Subgroup analysis indicated a significant risk of MS in all genotype models but heterozygotes in Asians.

CONCLUSION

FOXP3 gene polymorphism rs3761548 was associated with a higher MS risk, especially in Asians. This conclusion needs to be validated in more large samples and multiracial studies.

LEVEL OF EVIDENCE

Level III diagnostic study.

摘要

背景

多发性硬化症(MS)是中枢神经系统(CNS)常见的自身免疫性疾病,与遗传因素有关。已有报道称FOXP3基因多态性是MS的危险因素,然而,先前的研究结果相互矛盾。本研究旨在探讨FOXP3基因多态性与MS易感性之间的关联。

方法

使用PubMed、Embase、Cochrane图书馆和Web of Science检索1980年1月至2018年10月期间符合条件的文章。采用比值比(OR)及其95%置信区间(CI)评估关联强度。采用等位基因模型、纯合子模型、杂合子模型、显性模型和隐性模型评估FOXP3基因多态性与MS之间的关联。

结果

本荟萃分析共纳入5项研究,其中1276例MS患者和rs3761548的1447例对照,以及600例MS患者和rs2232365的640例对照。rs3761548多态性在等位基因和显性模型中的关联显示出显著差异。此外,rs3761548在纯合子和隐性模型中检测到明显的显著性趋势(P = 0.052)。亚组分析表明,在所有基因型模型中,MS均有显著风险,但亚洲人的杂合子除外。

结论

FOXP3基因多态性rs3761548与较高的MS风险相关,尤其是在亚洲人中。这一结论需要在更多大样本和多种族研究中得到验证。

证据水平

III级诊断研究。

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