EVI5基因rs11808092、CD58基因rs2300747和CIITA基因rs3087456多态性与多发性硬化症风险的关联：一项荟萃分析。
Association of EVI5 rs11808092, CD58 rs2300747, and CIITA rs3087456 polymorphisms with multiple sclerosis risk: A meta-analysis.
作者信息
Liu Jiahe, Liu Xu, Liu Yong, Deng Shimin, Huang Hongbin, Chen Qicong, Liu Weidong, Huang Zunnan
机构信息
Key Laboratory for Medical Molecular Diagnostics of Guangdong Province, Dongguan Scientific Research Center, Guangdong Medical University, Dongguan, Guangdong 523808, China; The Second School of Clinical Medicine, Guangdong Medical University, Dongguan, Guangdong 523808, China.
Key Laboratory for Medical Molecular Diagnostics of Guangdong Province, Dongguan Scientific Research Center, Guangdong Medical University, Dongguan, Guangdong 523808, China; School of Pharmacy, Guangdong Medical University, Dongguan, Guangdong 523808, China; Key Laboratory for Research and Development of Natural Drugs of Guangdong Province, Zhanjiang, Guangdong 524023, China.
出版信息
Meta Gene. 2016 Apr 25;9:97-103. doi: 10.1016/j.mgene.2016.04.005. eCollection 2016 Sep.
PURPOSE
Multiple sclerosis (MS) is a major demyelinating disease of the central nervous system with a strong genetic component. Previous studies have reported that the association of EVI5 rs11808092, CD58 rs2300747, and CIITA rs3087456 polymorphisms with the susceptibility to MS. However, the results were inconsistent. Thus, we conducted this meta-analysis to provide a more accurate estimation of the association between any of these polymorphisms and MS risk.
METHODS
The PubMed, Embase, Chinese National Knowledge Infrastructure, Wan Fang databases and MSGene were used to search all potentially relevant studies. The odds ratio (OR) with 95% confidence interval (CI) was used to investigate the associations between these three polymorphisms and MS risk.
RESULTS
16 independent case-control studies from 12 publications were finally included into this meta-analysis. The results showed that EVI5 rs11808092 polymorphism was related with increasing the development of MS under five genetic models (allelic: OR = 1.17, 95% CI = 1.10-1.24, P < 0.01; homozygous: OR = 1.37, 95% CI = 1.18-1.59, P < 0.01; heterozygous: OR = 1.16, 95% CI = 1.07-1.26, P < 0.01; recessive: OR = 1.28, 95% CI = 1.11-1.48, P < 0.01; and dominant: OR = 1.19, 95% CI = 1.11-1.48, P < 0.01). CD58 rs2300747 polymorphism was found to be associated with decreasing MS risk in three genetic models (allelic: OR = 0.86, 95% CI = 0.78-0.94, P < 0.01; heterozygous: OR = 0.85, 95% CI = 0.76-0.94, P < 0.01, and dominant: OR = 0.84, 95% CI = 0.76-0.93, P < 0.01). However, this meta-analysis indicated that CIITA rs3087456 polymorphism was not related to multiple sclerosis.
CONCLUSIONS
The mutant alleles of EVI5 rs11808092 polymorphism may increase the susceptibility to MS while those of CD58 rs2300747 polymorphism may decrease MS risk. In addition, CIITA rs3087456 polymorphism might not be associated with MS.
目的
多发性硬化症（MS）是一种中枢神经系统主要的脱髓鞘疾病，具有很强的遗传因素。既往研究报道了EVI5基因rs11808092、CD58基因rs2300747和CIITA基因rs3087456多态性与MS易感性的关联。然而，结果并不一致。因此，我们进行了这项荟萃分析，以更准确地评估这些多态性中的任何一种与MS风险之间的关联。
方法
使用PubMed、Embase、中国知网、万方数据库和MSGene检索所有潜在相关研究。采用比值比（OR）及95%置信区间（CI）来研究这三种多态性与MS风险之间的关联。
结果
最终纳入了来自12篇出版物的16项独立病例对照研究进行这项荟萃分析。结果显示，在五种遗传模型下，EVI5基因rs11808092多态性与MS发病风险增加相关（等位基因：OR = 1.17，95%CI = 1.10 - 1.24，P < 0.01；纯合子：OR = 1.37，95%CI = 1.18 - 1.59，P < 0.01；杂合子：OR =
1.16，95%CI = 1.07 - 1.26，P < 0.01；隐性：OR = 1.28，95%CI = 1.11 - 1.48，P < 0.01；显性：OR = 1.19，95%CI = 1.11 - 1.48，P < 0.01）。发现CD58基因rs2300747多态性在三种遗传模型下与MS风险降低相关（等位基因：OR = 0.86，95%CI = 0.78 - 0.94，P < 0.01；杂合子：OR = 0.85，95%CI = 0.76 - 0.94，P < 0.01，显性：OR = 0.84，95%CI = 0.76 - 0.93，P < 0.01）。然而，这项荟萃分析表明CIITA基因rs3087456多态性与多发性硬化症无关。
结论
EVI5基因rs11808092多态性的突变等位基因可能增加MS易感性，而CD58基因rs2300747多态性的突变等位基因可能降低MS风险。此外，CIITA基因rs3087456多态性可能与MS无关。
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