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中国汉族人群中MIR155HG/miR - 155基因的标签单核苷酸多态性和罕见拷贝数变异与癫痫的关联

Association of Tag SNPs and Rare CNVs of the MIR155HG/miR-155 Gene with Epilepsy in the Chinese Han Population.

作者信息

Tao Hua, Cui Lili, Li You, Zhou Xu, Ma Guoda, Yao Lifen, Fu Jiawu, Li Wen, Cai Yujie, Zhou Haihong, Zhong Wangtao, Zhang Shuyan, Xu Zhien, Li Keshen, Zhao Bin

机构信息

Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China.

Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.

出版信息

Biomed Res Int. 2015;2015:837213. doi: 10.1155/2015/837213. Epub 2015 Sep 6.

DOI:10.1155/2015/837213
PMID:26425555
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4575730/
Abstract

BACKGROUND

miR-155 likely acts as an important modulator in the inflammatory mechanism of epilepsy, and this study investigated its association with epilepsy from the perspective of molecular genetics.

METHODS

This study enrolled 249 epileptic patients and 289 healthy individuals of the Chinese Han population; 4 tag single-nucleotide polymorphisms (SNPs: rs969885, rs12483428, rs987195, and rs4817027) of the MIR155HG/miR-155 gene were selected, and their association with epilepsy was investigated. Additionally, this study determined the copy numbers of the MIR155HG/miR-155 gene.

RESULTS

The TCA haplotype (rs12483428-rs987195-rs4817027) and the AA genotype at rs4817027 conferred higher vulnerability to epilepsy in males. Stratification by age of onset revealed that the CC haplotype (rs969885-rs987195) was a genetic susceptibility factor for early-onset epilepsy. Further stratification by drug-resistant status indicated the CC haplotype (rs969885-rs987195) and the AA genotype at rs4817027 were genetic susceptibility factors for drug-resistant epilepsy (DRE) but the CG haplotype (rs987195-rs969885) was a genetically protective factor against DRE. Besides, 3 epileptic patients with copy number variants of the MIR155HG/miR-155 gene were observed.

CONCLUSIONS

This study first demonstrates the association of MIR155HG/miR-155 tag SNPs with epilepsy and shows that rare CNVs were found exclusively in epileptic patients, clarifying the genetic role of miR-155 in epilepsy.

摘要

背景

miR - 155可能是癫痫炎症机制中的重要调节因子，本研究从分子遗传学角度探讨其与癫痫的关联。

方法

本研究纳入了249例中国汉族癫痫患者和289例健康个体；选择了MIR155HG/miR - 155基因的4个标签单核苷酸多态性（SNPs：rs969885、rs12483428、rs987195和rs4817027），并研究它们与癫痫的关联。此外，本研究还测定了MIR155HG/miR - 155基因的拷贝数。

结果

TCA单倍型（rs12483428 - rs987195 - rs4817027）以及rs4817027位点的AA基因型使男性患癫痫的易感性更高。按发病年龄分层显示，CC单倍型（rs969885 - rs987195）是早发性癫痫的遗传易感性因素。按耐药状态进一步分层表明，CC单倍型（rs969885 - rs987195）和rs4817027位点的AA基因型是耐药性癫痫（DRE）的遗传易感性因素，但CG单倍型（rs987195 - rs969885）是预防DRE的遗传保护因素。此外，观察到3例MIR155HG/miR - 155基因拷贝数变异的癫痫患者。

结论

本研究首次证明了MIR155HG/miR - 155标签SNPs与癫痫的关联，并表明仅在癫痫患者中发现了罕见的拷贝数变异（CNVs），阐明了miR - 155在癫痫中的遗传作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce21/4575730/c5268e8fcec8/BMRI2015-837213.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce21/4575730/fcdbaedbcb33/BMRI2015-837213.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce21/4575730/c5268e8fcec8/BMRI2015-837213.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce21/4575730/fcdbaedbcb33/BMRI2015-837213.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce21/4575730/c5268e8fcec8/BMRI2015-837213.002.jpg

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