title: Association of KEAP1 and NFE2L2 polymorphisms with temporal lobe epilepsy and drug resistant epilepsy.
abstract: OBJECTIVE
  Temporal lobe epilepsy (TLE) is a prevalent form of epilepsy. TLE contributes to the majority of drug resistant epilepsy (DRE) cases and is associated with genetic factors. Kelch-like ECH-associated protein 1 (KEAP1)/Nuclear erythroid 2-related factor 2 (known as NFE2L2 or Nrf2) association has been implicated in neuroprotection due to induction of antioxidant enzymes. The association of one single KEAP1 gene nucleotide polymorphism (SNP) and nine NFE2L2 gene SNPs with TLE and DRE were examined to determine whether these SNPs influenced the risk of TLE and DRE in a Han population.
  
  
  METHODS
  A total of 184 TLE patients (including 72 DRE patients) and 183 controls were included in this analysis. The SNaPshot Multiplex kit was used to assess the genotypes.
  
  
  RESULTS
  A NFE2L2 gene haplotype was identified as a risk factor for TLE (OR=7.11, 95% CI 1.53-32.98). Additionally, rs2706110 G>A in the NFE2L2 gene and rs1048290 C>G in the KEAP1 gene showed a significant risk for and a protective effect against DRE, respectively.
  
  
  CONCLUSIONS
  Our findings suggest that variations in NFE2L2 gene increase the risk of TLE and DRE but that variations in KEAP1 gene play a protective role for DRE.
authors.affiliation: Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China; Department of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
authors.forename: Zhou
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Department of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
authors.forename: Xiaojian
authors.initials: X
authors.lastname: Yin
authors.affiliation: Department of Neurology, Chenzhou No. 1 People's Hospital, Chenzhou, China.
authors.forename: Lingying
authors.initials: L
authors.lastname: Liu
authors.affiliation: Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Tao
authors.affiliation: Department of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
authors.forename: Haihong
authors.initials: H
authors.lastname: Zhou
authors.affiliation: Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
authors.forename: Guoda
authors.initials: G
authors.lastname: Ma
authors.affiliation: Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
authors.forename: Lili
authors.initials: L
authors.lastname: Cui
authors.affiliation: Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
authors.forename: You
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of Neurology, The Fourth Affiliated Hospital of Harbin Medical University, Harbin, China.
authors.forename: Shuyan
authors.initials: S
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
authors.forename: Zhi'en
authors.initials: Z
authors.lastname: Xu
authors.affiliation: Department of Neurology, The First Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: LiFen
authors.initials: L
authors.lastname: Yao
authors.affiliation: Department of Neurology, Renmin Hospital, Hubei University of Medicine, Hubei, China.
authors.forename: Zhiyou
authors.initials: Z
authors.lastname: Cai
authors.affiliation: Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China; Department of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Zhao
authors.affiliation: Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
authors.forename: Keshen
authors.initials: K
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002648:Child; D000069279:Drug Resistant Epilepsy / Q000235:genetics*; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D000072019:Kelch-Like ECH-Associated Protein 1; D008297:Male; D008875:Middle Aged; D051267:NF-E2-Related Factor 2 / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C431364:KEAP1 protein, human; D000072019:Kelch-Like ECH-Associated Protein 1; D051267:NF-E2-Related Factor 2; C495635:NFE2L2 protein, human
keywords: Drug resistant epilepsy (DRE); Kelch-like ECH-associated protein 1 (KEAP1); Nuclear erythroid 2-related factor 2 (NFE2L2); Polymorphism; Temporal lobe epilepsy (TLE)