Association of KEAP1 and NFE2L2 polymorphisms with temporal lobe epilepsy and drug resistant epilepsy

Gene

Volumn 571, Issue 2, 2015, Pages 231-236

  Liu, Zhou ^a   Yin, Xiaojian ^a   Liu, Lingying ^b   Tao, Hua ^a   Zhou, Haihong ^a   Ma, Guoda ^a   Cui, Lili ^a   Li, You ^a   Zhang, Shuyan ^c   Xu, Zhi'en ^a   Yao, LiFen ^c   Cai, Zhiyou ^d   Zhao, Bin ^a   Li, Keshen ^a  

^a GUANGDONG MEDICAL UNIVERSITY   (China)

^b Chenzhou No 1 People's Hospital   (China)

^c HARBIN MEDICAL UNIVERSITY   (China)

^d HUBEI UNIVERSITY OF MEDICINE   (China)

Author keywords

Drug resistant epilepsy (DRE); Kelch like ECH associated protein 1 (KEAP1); Nuclear erythroid 2 related factor 2 (NFE2L2); Polymorphism; Temporal lobe epilepsy (TLE)

Indexed keywords

KELCH LIKE ECH ASSOCIATED PROTEIN 1; TRANSCRIPTION FACTOR NRF2; KEAP1 PROTEIN, HUMAN; NFE2L2 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ADULT; ARTICLE; CODOMINANCE; CONTROLLED STUDY; DOMINANT INHERITANCE; DRUG RESISTANT EPILEPSY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HAN CHINESE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION SYSTEM; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; TEMPORAL LOBE EPILEPSY; ADOLESCENT; AGED; CASE CONTROL STUDY; CHILD; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CASE-CONTROL STUDIES; CHILD; DRUG RESISTANT EPILEPSY; EPILEPSY, TEMPORAL LOBE; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; NF-E2-RELATED FACTOR 2; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 84940603117     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2015.06.055     Document Type: Article

References (29)

1. Aguiar C.C.T., Almeida A.B., Araújo P.V.P., Abreu R.N.D.C.d., Chaves E.M.C., Vale O.C.d., Macêdo D.S., Woods D.J., Fonteles M.M.d.F., Vasconcelos S.M.M. Oxidative stress and epilepsy: literature review. Oxidative Med. Cell. Longev. 2012, 795259. 10.1155/2012/795259.
2. Bergström P., von Otter M., Nilsson S., Nilsson A.-C., Nilsson M., Andersen P.M., Hammarsten O., Zetterberg H. Association of NFE2L2 and KEAP1 haplotypes with amyotrophic lateral sclerosis. Amyotroph. Lateral Scler. Frontotemporal Degener. 2014, 15:130-137.
3. Cavalleri G.L., Lynch J.M., Depondt C., Burley M.-W., Wood N.W., Sisodiya S.M., Goldstein D.B. Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here?. Brain 2005, 128:1832-1840.
4. Hartikainen J.M., Tengström M., Kosma V.-M., Kinnula V.L., Mannermaa A., Soini Y. Genetic polymorphisms and protein expression of NRF2 and sulfiredoxin predict survival outcomes in breast cancer. Cancer Res. 2012, 72:5537-5546.
5. Hwang S.K., Hirose S. Genetics of temporal lobe epilepsy. Brain Dev. 2012, 34:609-616.
6. Itoh K., Chiba T., Takahashi S., Ishii T., Igarashi K., Katoh Y., Oyake T., Hayashi N., Satoh K., Hatayama I., Yamamoto M., Nabeshima Y. An Nrf2/small Maf heterodimer mediates the induction of phase II detoxifying enzyme genes through antioxidant response elements. Biochem. Biophys. Res. Commun. 1997, 236:313-322.
7. Kang H.J., Yi Y.W., Hong Y.B., Kim H.J., Jang Y.J., Seong Y.S., Bae I. HER2 confers drug resistance of human breast cancer cells through activation of NRF2 by direct interaction. Sci. Rep. 2014, 4:7201.
8. Kobayashi A., Kang M.-I., Okawa H., Ohtsuji M., Zenke Y., Chiba T., Igarashi K., Yamamoto M. Oxidative stress sensor Keap1 functions as an adaptor for Cul3-based E3 ligase to regulate proteasomal degradation of Nrf2. Mol. Cell. Biol. 2004, 24:7130-7139.
9. Kraft A.D., Lee J.M., Johnson D.A., Kan Y.W., Johnson J.A. Neuronal sensitivity to kainic acid is dependent on the Nrf2-mediated actions of the antioxidant response element. J. Neurochem. 2006, 98:1852-1865.
10. Kwan P., Arzimanoglou A., Berg A.T., Brodie M.J., Allen Hauser W., Mathern G., Moshe S.L., Perucca E., Wiebe S., French J. Definition of drug resistant epilepsy: consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies. Epilepsia 2010, 51:1069-1077.
11. Li Y., Liao F., Yin X.J., Cui L.L., Ma G.D., Nong X.X., Zhou H.H., Chen Y.F., Zhao B., Li K.S. An association study on ADAM10 promoter polymorphisms and atherosclerotic cerebral infarction in a Chinese population. CNS Neurosci. Ther. 2013, 19:785-794.
12. Liu J., Wang A., Li L., Huang Y., Xue P., Hao A. Oxidative stress mediates hippocampal neuron death in rats after lithium-pilocarpine-induced status epilepticus. Seizure 2010, 19:165-172.
13. LoGerfo A., Chico L., Borgia L., Petrozzi L., Rocchi A., D'Amelio A., Carlesi C., Caldarazzo Ienco E., Mancuso M., Siciliano G. Lack of association between nuclear factor erythroid-derived 2-like 2 promoter gene polymorphisms and oxidative stress biomarkers in amyotrophic lateral sclerosis patients. Oxidative Med. Cell. Longev. 2014, 2014:432626.
14. Marczak E.D., Marzec J., Zeldin D.C., Kleeberger S.R., Brown N.J., Pretorius M., Lee C.R. Polymorphisms in the transcription factor NRF2 and forearm vasodilator responses in humans. Pharmacogenet. Genomics 2012, 22:620.
15. Marzec J.M., Christie J.D., Reddy S.P., Jedlicka A.E., Vuong H., Lanken P.N., Aplenc R., Yamamoto T., Yamamoto M., Cho H.-Y. Functional polymorphisms in the transcription factor NRF2 in humans increase the risk of acute lung injury. FASEB J. 2007, 21:2237-2246.
16. Meng H., Guo J., Wang H., Yan P., Niu X., Zhang J. Erythropoietin activates Keap1-Nrf2/ARE pathway in rat brain after ischemia. Int. J. Neurosci. 2014, 124:362-368.
17. Roger J., Dreifuss F., Martinez-Lage M., Munari C., Porter R., Seino M., Wolf P. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989, 30:389-399.
18. Semah F., Picot M.C., Adam C., Broglin D., Arzimanoglou A., Bazin B., Cavalcanti D., Baulac M. Is the underlying cause of epilepsy a major prognostic factor for recurrence?. Neurology 1998, 51:1256-1262.
19. Sole X., Guino E., Valls J., Iniesta R., Moreno V. SNPStats: a web tool for the analysis of association studies. Bioinformatics 2006, 22:1928-1929.
20. Sun Z.W., Zhang L., Zhu S.J., Chen W.C., Mei B. Excitotoxicity effects of glutamate on human neuroblastoma SH-SY5Y cells via oxidative damage. Neurosci. Bull. 2010, 26:8-16.
21. Taguchi K., Motohashi H., Yamamoto M. Molecular mechanisms of the Keap1-Nrf2 pathway in stress response and cancer evolution. Genes Cells 2011, 16:123-140.
22. Tellez-Zenteno J.F., Hernandez-Ronquillo L. A review of the epidemiology of temporal lobe epilepsy. Epilepsy Res. Treat. 2012, 2012:630853.
23. Teshiba R., Tajiri T., Sumitomo K., Masumoto K., Taguchi T., Yamamoto K. Identification of a KEAP1 germline mutation in a family with multinodular goitre. PLoS One 2013, 8:e65141. 10.1371/journal.pone.0065141.
24. von Otter M., Landgren S., Nilsson S., Celojevic D., Bergstrom P., Hakansson A., Nissbrandt H., Drozdzik M., Bialecka M., Kurzawski M., Blennow K., Nilsson M., Hammarsten O., Zetterberg H. Association of Nrf2-encoding NFE2L2 haplotypes with Parkinson's disease. BMC Med. Genet. 2010, 11:36.
25. von Otter M., Landgren S., Nilsson S., Zetterberg M., Celojevic D., Bergström P., Minthon L., Bogdanovic N., Andreasen N., Gustafson D.R. Nrf2-encoding NFE2L2 haplotypes influence disease progression but not risk in Alzheimer's disease and age-related cataract. Mech. Ageing Dev. 2010, 131:105-110.
26. von Otter M., Bergström P., Quattrone A., De Marco E.V., Annesi G., Söderkvist P., Wettinger S.B., Drozdzik M., Bialecka M., Nissbrandt H. Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson's disease-a multicenter study. BMC Med. Genet. 2014, 15:131.
27. Wang W., Wu Y., Zhang G., Fang H., Wang H., Zang H., Xie T. Activation of Nrf2-ARE signal pathway protects the brain from damage induced by epileptic seizure. Brain Res. 2014, 1544:54-61.
28. Wong T.F., Yoshinaga K., Monma Y., Ito K., Niikura H., Nagase S., Yamamoto M., Yaegashi N. Association of keap1 and nrf2 genetic mutations and polymorphisms with endometrioid endometrial adenocarcinoma survival. Int. J. Gynecol. Cancer 2011, 21:1428-1435.
29. Yu B., Chen J., Liu D., Zhou H., Xiao W., Xia X., Huang Z. Cigarette smoking is associated with human semen quality in synergy with functional NRF2 polymorphisms. Biol. Reprod. 2013, 89:5.