title: Association of Tag SNPs and Rare CNVs of the MIR155HG/miR-155 Gene with Epilepsy in the Chinese Han Population.
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.
authors.affiliation: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Tao
authors.affiliation: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
authors.forename: Lili
authors.initials: L
authors.lastname: Cui
authors.affiliation: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
authors.forename: You
authors.initials: Y
authors.lastname: Li
authors.affiliation: Clinical Research Center, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
authors.forename: Xu
authors.initials: X
authors.lastname: Zhou
authors.affiliation: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
authors.forename: Guoda
authors.initials: G
authors.lastname: Ma
authors.affiliation: Department of Neurology, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150001, China.
authors.forename: Lifen
authors.initials: L
authors.lastname: Yao
authors.affiliation: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
authors.forename: Jiawu
authors.initials: J
authors.lastname: Fu
authors.affiliation: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
authors.forename: Wen
authors.initials: W
authors.lastname: Li
authors.affiliation: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
authors.forename: Yujie
authors.initials: Y
authors.lastname: Cai
authors.affiliation: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
authors.forename: Haihong
authors.initials: H
authors.lastname: Zhou
authors.affiliation: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
authors.forename: Wangtao
authors.initials: W
authors.lastname: Zhong
authors.affiliation: Department of Neurology, The Fourth Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150001, China.
authors.forename: Shuyan
authors.initials: S
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
authors.forename: Zhien
authors.initials: Z
authors.lastname: Xu
authors.affiliation: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
authors.forename: Keshen
authors.initials: K
authors.lastname: Li
authors.affiliation: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China ; Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Zhao
mesh_terms: D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D056915:DNA Copy Number Variations / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D004833:Epilepsy, Temporal Lobe / Q000235:genetics; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D035683:MicroRNAs / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C524942:MIRN155 microRNA, human; D035683:MicroRNAs