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

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 Ha...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4575730/
https://www.ncbi.nlm.nih.gov/pubmed/26425555
http://dx.doi.org/10.1155/2015/837213
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author 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
author_facet 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
author_sort Tao, Hua
collection PubMed
description 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.
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spelling pubmed-45757302015-09-30 Association of Tag SNPs and Rare CNVs of the MIR155HG/miR-155 Gene with Epilepsy in the Chinese Han Population 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 Biomed Res Int Research Article 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. Hindawi Publishing Corporation 2015 2015-09-06 /pmc/articles/PMC4575730/ /pubmed/26425555 http://dx.doi.org/10.1155/2015/837213 Text en Copyright © 2015 Hua Tao et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
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
Association of Tag SNPs and Rare CNVs of the MIR155HG/miR-155 Gene with Epilepsy in the Chinese Han Population
title Association of Tag SNPs and Rare CNVs of the MIR155HG/miR-155 Gene with Epilepsy in the Chinese Han Population
title_full Association of Tag SNPs and Rare CNVs of the MIR155HG/miR-155 Gene with Epilepsy in the Chinese Han Population
title_fullStr Association of Tag SNPs and Rare CNVs of the MIR155HG/miR-155 Gene with Epilepsy in the Chinese Han Population
title_full_unstemmed Association of Tag SNPs and Rare CNVs of the MIR155HG/miR-155 Gene with Epilepsy in the Chinese Han Population
title_short Association of Tag SNPs and Rare CNVs of the MIR155HG/miR-155 Gene with Epilepsy in the Chinese Han Population
title_sort association of tag snps and rare cnvs of the mir155hg/mir-155 gene with epilepsy in the chinese han population
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4575730/
https://www.ncbi.nlm.nih.gov/pubmed/26425555
http://dx.doi.org/10.1155/2015/837213
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