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

Hua Tao, Lili Cui, You Li, Xu Zhou, Guoda Ma, Lifen Yao, Jiawu Fu, Wen Li, Yujie Cai, Haihong Zhou, Wangtao Zhong, Shuyan Zhang, Zhien Xu, Keshen Li, Bin Zhao
Author Information
  1. Hua Tao: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
  2. Lili Cui: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
  3. You Li: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
  4. Xu Zhou: Clinical Research Center, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
  5. Guoda Ma: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
  6. Lifen Yao: Department of Neurology, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150001, China.
  7. Jiawu Fu: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
  8. Wen Li: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
  9. Yujie Cai: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
  10. Haihong Zhou: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
  11. Wangtao Zhong: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
  12. Shuyan Zhang: Department of Neurology, The Fourth Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150001, China.
  13. Zhien Xu: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
  14. Keshen Li: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
  15. Bin Zhao: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China ; Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.

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.

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MeSH Term

Adult
Age of Onset
Asian People
Case-Control Studies
DNA Copy Number Variations
Epilepsy
Epilepsy, Temporal Lobe
Ethnicity
Female
Gene Frequency
Genetic Association Studies
Genetic Loci
Genetic Predisposition to Disease
Haplotypes
Humans
Male
MicroRNAs
Polymorphism, Single Nucleotide

Chemicals

MIRN155 microRNA, human
MicroRNAs

Word Cloud

Created with Highcharts 10.0.0epilepsyMIR155HG/miR-155studyhaplotypeassociationepilepticpatientsrs4817027genegeneticmiR-155investigatedChineseHantagcopyAAgenotypeCCrs969885-rs987195susceptibilityfactordrug-resistantDRESNPsCNVsBACKGROUND:likelyactsimportantmodulatorinflammatorymechanismperspectivemoleculargeneticsMETHODS:enrolled249289healthyindividualspopulation4single-nucleotidepolymorphismsSNPs:rs969885rs12483428rs987195selectedAdditionallydeterminednumbersRESULTS:TCArs12483428-rs987195-rs4817027conferredhighervulnerabilitymalesStratificationageonsetrevealedearly-onsetstratificationstatusindicatedfactorsCGrs987195-rs969885geneticallyprotectiveBesides3numbervariantsobservedCONCLUSIONS:firstdemonstratesshowsrarefoundexclusivelyclarifyingroleAssociationTagRareGeneEpilepsyPopulation

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