메뉴 건너뛰기




Volumn 5, Issue 9, 2010, Pages 1-8

Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C3; MICROSATELLITE DNA;

EID: 77958550127     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0012740     Document Type: Article
Times cited : (27)

References (46)
  • 1
    • 36048937343 scopus 로고    scopus 로고
    • Complement-targeted therapeutics
    • Ricklin D, Lambris JD (2007) Complement-targeted therapeutics. Nat Biotechnol 25: 1265-1275.
    • (2007) Nat Biotechnol , vol.25 , pp. 1265-1275
    • Ricklin, D.1    Lambris, J.D.2
  • 3
  • 4
    • 0033921540 scopus 로고    scopus 로고
    • Complement components of the innate immune system in health and disease in the CNS
    • Gasque P, Dean YD, McGreal EP, VanBeek J, Morgan BP (2000) Complement components of the innate immune system in health and disease in the CNS. Immunopharmacology 49: 171-186.
    • (2000) Immunopharmacology , vol.49 , pp. 171-186
    • Gasque, P.1    Dean, Y.D.2    McGreal, E.P.3    Vanbeek, J.4    Morgan, B.P.5
  • 5
    • 0037791771 scopus 로고    scopus 로고
    • Activation of complement in the central nervous system: Roles in neurodegeneration and neuroprotection
    • van Beek J, Elward K, Gasque P (2003) Activation of complement in the central nervous system: roles in neurodegeneration and neuroprotection. Ann N Y Acad Sci 992: 56-71.
    • (2003) Ann N Y Acad Sci , vol.992 , pp. 56-71
    • van Beek, J.1    Elward, K.2    Gasque, P.3
  • 6
    • 0141991166 scopus 로고    scopus 로고
    • Yin and Yang: Complement activation and regulation in Alzheimer's disease
    • Shen Y, Meri S (2003) Yin and Yang: complement activation and regulation in Alzheimer's disease. Prog Neurobiol 70: 463-472.
    • (2003) Prog Neurobiol , vol.70 , pp. 463-472
    • Shen, Y.1    Meri, S.2
  • 7
    • 58149277249 scopus 로고    scopus 로고
    • Complement in multiple sclerosis: Its role in disease and potential as a biomarker
    • Ingram G, Hakobyan S, Robertson NP, Morgan BP (2009) Complement in multiple sclerosis: its role in disease and potential as a biomarker. Clin Exp Immunol 155: 128-139.
    • (2009) Clin Exp Immunol , vol.155 , pp. 128-139
    • Ingram, G.1    Hakobyan, S.2    Robertson, N.P.3    Morgan, B.P.4
  • 8
    • 70350061382 scopus 로고    scopus 로고
    • A secreted complement-control-related protein ensures acetylcholine receptor clustering
    • Gendrel M, Rapti G, Richmond JE, Bessereau JL (2009) A secreted complement-control-related protein ensures acetylcholine receptor clustering. Nature 461: 992-996.
    • (2009) Nature , vol.461 , pp. 992-996
    • Gendrel, M.1    Rapti, G.2    Richmond, J.E.3    Bessereau, J.L.4
  • 9
    • 33645115357 scopus 로고    scopus 로고
    • SRPX2 mutations in disorders of language cortex and cognition
    • Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, et al. (2006) SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 15: 1195-1207.
    • (2006) Hum Mol Genet , vol.15 , pp. 1195-1207
    • Roll, P.1    Rudolf, G.2    Pereira, S.3    Royer, B.4    Scheffer, I.E.5
  • 11
    • 70349558522 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
    • Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, et al. (2009) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 41: 1088-1093.
    • (2009) Nat Genet , vol.41 , pp. 1088-1093
    • Harold, D.1    Abraham, R.2    Hollingworth, P.3    Sims, R.4    Gerrish, A.5
  • 12
    • 78549264026 scopus 로고    scopus 로고
    • Genomewide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
    • Lambert JC, Heath S, Even G, Campion D, Sleegers K, et al. (2009) Genomewide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet 41: 1094-1099.
    • (2009) Nat Genet , vol.41 , pp. 1094-1099
    • Lambert, J.C.1    Heath, S.2    Even, G.3    Campion, D.4    Sleegers, K.5
  • 13
    • 0034307760 scopus 로고    scopus 로고
    • GluR3 autoantibodies destroy neural cells in a complement-dependent manner modulated by complement regulatory proteins
    • Whitney KD, McNamara JO (2000) GluR3 autoantibodies destroy neural cells in a complement-dependent manner modulated by complement regulatory proteins. J Neurosci 20: 7307-7316.
    • (2000) J Neurosci , vol.20 , pp. 7307-7316
    • Whitney, K.D.1    McNamara, J.O.2
  • 14
    • 0037322558 scopus 로고    scopus 로고
    • Formation of complement membrane attack complex in mammalian cerebral cortex evokes seizures and neurodegeneration
    • Xiong ZQ, Qian W, Suzuki K, McNamara JO (2003) Formation of complement membrane attack complex in mammalian cerebral cortex evokes seizures and neurodegeneration. J Neurosci 23: 955-960.
    • (2003) J Neurosci , vol.23 , pp. 955-960
    • Xiong, Z.Q.1    Qian, W.2    Suzuki, K.3    McNamara, J.O.4
  • 15
    • 33244476007 scopus 로고    scopus 로고
    • Large-scale expression study of human mesial temporal lobe epilepsy: Evidence for dysregulation of the neurotransmission and complement systems in the entorhinal cortex
    • Jamali S, Bartolomei F, Robaglia-Schlupp A, Massacrier A, Peragut JC, et al. (2006) Large-scale expression study of human mesial temporal lobe epilepsy: evidence for dysregulation of the neurotransmission and complement systems in the entorhinal cortex. Brain 129: 625-641.
    • (2006) Brain , vol.129 , pp. 625-641
    • Jamali, S.1    Bartolomei, F.2    Robaglia-Schlupp, A.3    Massacrier, A.4    Peragut, J.C.5
  • 16
    • 34248563861 scopus 로고    scopus 로고
    • Complement activation in experimental and human temporal lobe epilepsy
    • Aronica E, Boer K, van Vliet EA, Redeker S, Baayen JC, et al. (2007) Complement activation in experimental and human temporal lobe epilepsy. Neurobiol Dis 26: 497-511.
    • (2007) Neurobiol Dis , vol.26 , pp. 497-511
    • Aronica, E.1    Boer, K.2    van Vliet, E.A.3    Redeker, S.4    Baayen, J.C.5
  • 17
    • 33751099302 scopus 로고    scopus 로고
    • Potential new antiepileptogenic targets indicated by microarray analysis in a rat model for temporal lobe epilepsy
    • Gorter JA, van Vliet EA, Aronica E, Breit T, Rauwerda H, et al. (2006) Potential new antiepileptogenic targets indicated by microarray analysis in a rat model for temporal lobe epilepsy. J Neurosci 26: 11083-11110.
    • (2006) J Neurosci , vol.26 , pp. 11083-11110
    • Gorter, J.A.1    van Vliet, E.A.2    Aronica, E.3    Breit, T.4    Rauwerda, H.5
  • 18
    • 0036499726 scopus 로고    scopus 로고
    • Current status and future directions in the pharmacotherapy of epilepsy
    • Loscher W (2002) Current status and future directions in the pharmacotherapy of epilepsy. Trends Pharmacol Sci 23: 113-118.
    • (2002) Trends Pharmacol Sci , vol.23 , pp. 113-118
    • Loscher, W.1
  • 20
    • 0031911013 scopus 로고    scopus 로고
    • Familial temporal lobe epilepsy: A clinically heterogeneous syndrome
    • Cendes F, Lopes-Cendes I, Andermann E, Andermann F (1998) Familial temporal lobe epilepsy: a clinically heterogeneous syndrome. Neurology 50: 554-557.
    • (1998) Neurology , vol.50 , pp. 554-557
    • Cendes, F.1    Lopes-Cendes, I.2    Andermann, E.3    Andermann, F.4
  • 22
    • 0034985911 scopus 로고    scopus 로고
    • Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31
    • Baulac S, Picard F, Herman A, Feingold J, Genin E, et al. (2001) Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31. Ann Neurol 49: 786-792.
    • (2001) Ann Neurol , vol.49 , pp. 786-792
    • Baulac, S.1    Picard, F.2    Herman, A.3    Feingold, J.4    Genin, E.5
  • 23
    • 4444324827 scopus 로고    scopus 로고
    • Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures
    • Claes L, Audenaert D, Deprez L, Van Paesschen W, Depondt C, et al. (2004) Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures. J Med Genet 41: 710-714.
    • (2004) J Med Genet , vol.41 , pp. 710-714
    • Claes, L.1    Audenaert, D.2    Deprez, L.3    van Paesschen, W.4    Depondt, C.5
  • 24
    • 34250328603 scopus 로고    scopus 로고
    • Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3
    • Hedera P, Blair MA, Andermann E, Andermann F, D'Agostino D, et al. (2007) Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3. Neurology 68: 2107-2112.
    • (2007) Neurology , vol.68 , pp. 2107-2112
    • Hedera, P.1    Blair, M.A.2    Andermann, E.3    Andermann, F.4    D'agostino, D.5
  • 26
    • 7944233055 scopus 로고    scopus 로고
    • Genetic association studies in epilepsy: ''the truth is out there''
    • Tan NC, Mulley JC, Berkovic SF (2004) Genetic association studies in epilepsy: ''the truth is out there''. Epilepsia 45: 1429-1442.
    • (2004) Epilepsia , vol.45 , pp. 1429-1442
    • Tan, N.C.1    Mulley, J.C.2    Berkovic, S.F.3
  • 27
    • 35248883597 scopus 로고    scopus 로고
    • Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: A case-control study
    • Cavalleri GL, Weale ME, Shianna KV, Singh R, Lynch JM, et al. (2007) Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol 6: 970-980.
    • (2007) Lancet Neurol , vol.6 , pp. 970-980
    • Cavalleri, G.L.1    Weale, M.E.2    Shianna, K.V.3    Singh, R.4    Lynch, J.M.5
  • 28
    • 0026092213 scopus 로고
    • Structural features of the human C3 gene: Intron/exon organization, transcriptional start site, and promoter region sequence
    • Vik DP, Amiguet P, Moffat GJ, Fey M, Amiguet-Barras F, et al. (1991) Structural features of the human C3 gene: intron/exon organization, transcriptional start site, and promoter region sequence. Biochemistry 30: 1080-1085.
    • (1991) Biochemistry , vol.30 , pp. 1080-1085
    • Vik, D.P.1    Amiguet, P.2    Moffat, G.J.3    Fey, M.4    Amiguet-Barras, F.5
  • 29
    • 9144261286 scopus 로고    scopus 로고
    • HIV-1 induces complement factor C3 synthesis in astrocytes and neurons by modulation of promoter activity
    • Bruder C, Hagleitner M, Darlington G, Mohsenipour I, Wurzner R, et al. (2004) HIV-1 induces complement factor C3 synthesis in astrocytes and neurons by modulation of promoter activity. Mol Immunol 40: 949-961.
    • (2004) Mol Immunol , vol.40 , pp. 949-961
    • Bruder, C.1    Hagleitner, M.2    Darlington, G.3    Mohsenipour, I.4    Wurzner, R.5
  • 30
    • 14844304328 scopus 로고    scopus 로고
    • Regulation of complement C3 expression by the bile acid receptor FXR
    • Li J, Pircher PC, Schulman IG, Westin SK (2005) Regulation of complement C3 expression by the bile acid receptor FXR. J Biol Chem 280: 7427-7434.
    • (2005) J Biol Chem , vol.280 , pp. 7427-7434
    • Li, J.1    Pircher, P.C.2    Schulman, I.G.3    Westin, S.K.4
  • 31
    • 0025221219 scopus 로고
    • A 58-base-pair region of the human C3 gene confers synergistic inducibility by interleukin-1 and interleukin-6
    • Wilson DR, Juan TS, Wilde MD, Fey GH, Darlington GJ (1990) A 58-base-pair region of the human C3 gene confers synergistic inducibility by interleukin-1 and interleukin-6. Mol Cell Biol 10: 6181-6191.
    • (1990) Mol Cell Biol , vol.10 , pp. 6181-6191
    • Wilson, D.R.1    Juan, T.S.2    Wilde, M.D.3    Fey, G.H.4    Darlington, G.J.5
  • 32
    • 0029856633 scopus 로고    scopus 로고
    • Identification of the sequences within the human complement 3 promoter required for estrogen responsiveness provides insight into the mechanism of tamoxifen mixed agonist activity
    • Fan JD, Wagner BL, McDonnell DP (1996) Identification of the sequences within the human complement 3 promoter required for estrogen responsiveness provides insight into the mechanism of tamoxifen mixed agonist activity. Mol Endocrinol 10: 1605-1616.
    • (1996) Mol Endocrinol , vol.10 , pp. 1605-1616
    • Fan, J.D.1    Wagner, B.L.2    McDonnell, D.P.3
  • 33
    • 0027536079 scopus 로고
    • Participation of the transcription factor C/EBP delta in the acute-phase regulation of the human gene for complement component C3
    • Juan TS, Wilson DR, Wilde MD, Darlington GJ (1993) Participation of the transcription factor C/EBP delta in the acute-phase regulation of the human gene for complement component C3. Proc Natl Acad Sci U S A 90: 2584-2588.
    • (1993) Proc Natl Acad Sci U S A , vol.90 , pp. 2584-2588
    • Juan, T.S.1    Wilson, D.R.2    Wilde, M.D.3    Darlington, G.J.4
  • 34
    • 40749097651 scopus 로고    scopus 로고
    • Methods for handling multiple testing
    • Rice TK, Schork NJ, Rao DC (2008) Methods for handling multiple testing. Adv Genet 60: 293-308.
    • (2008) Adv Genet , vol.60 , pp. 293-308
    • Rice, T.K.1    Schork, N.J.2    Rao, D.C.3
  • 35
    • 0040886242 scopus 로고    scopus 로고
    • Modulation of epidermal growth factor receptor gene transcription by a polymorphic dinucleotide repeat in intron 1
    • Gebhardt F, Zanker KS, Brandt B (1999) Modulation of epidermal growth factor receptor gene transcription by a polymorphic dinucleotide repeat in intron 1. J Biol Chem 274: 13176-13180.
    • (1999) J Biol Chem , vol.274 , pp. 13176-13180
    • Gebhardt, F.1    Zanker, K.S.2    Brandt, B.3
  • 36
    • 0025276590 scopus 로고
    • d(TG)n.d(CA)n sequences upstream of the rat prolactin gene form Z-DNA and inhibit gene transcription
    • Naylor LH, Clark EM (1990) d(TG)n.d(CA)n sequences upstream of the rat prolactin gene form Z-DNA and inhibit gene transcription. Nucleic Acids Res 18: 1595-1601.
    • (1990) Nucleic Acids Res , vol.18 , pp. 1595-1601
    • Naylor, L.H.1    Clark, E.M.2
  • 37
    • 0028264168 scopus 로고
    • Roles of CCAAT/enhancer-binding protein and its binding site on repression and derepression of acetyl-CoA carboxylase gene
    • Tae HJ, Luo X, Kim KH (1994) Roles of CCAAT/enhancer-binding protein and its binding site on repression and derepression of acetyl-CoA carboxylase gene. J Biol Chem 269: 10475-10484.
    • (1994) J Biol Chem , vol.269 , pp. 10475-10484
    • Tae, H.J.1    Luo, X.2    Kim, K.H.3
  • 38
    • 0033925281 scopus 로고    scopus 로고
    • Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema
    • Yamada N, Yamaya M, Okinaga S, Nakayama K, Sekizawa K, et al. (2000) Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema. Am J Hum Genet 66: 187-195.
    • (2000) Am J Hum Genet , vol.66 , pp. 187-195
    • Yamada, N.1    Yamaya, M.2    Okinaga, S.3    Nakayama, K.4    Sekizawa, K.5
  • 39
    • 32144457191 scopus 로고    scopus 로고
    • Febrile seizures
    • In: Arnold, ed., 2nd Editions London
    • Wallace SJ (2004) Febrile seizures. In: Arnold, ed. Epilepsy in Children, 2nd Editions London. pp 122-130.
    • (2004) Epilepsy in Children , pp. 122-130
    • Wallace, S.J.1
  • 40
    • 0001490738 scopus 로고    scopus 로고
    • Is epilepsy a progressive disorder? Prospects for new therapeutic approaches in temporal-lobe epilepsy
    • Pitkanen A, Sutula TP (2002) Is epilepsy a progressive disorder? Prospects for new therapeutic approaches in temporal-lobe epilepsy. Lancet Neurol 1: 173-181.
    • (2002) Lancet Neurol , vol.1 , pp. 173-181
    • Pitkanen, A.1    Sutula, T.P.2
  • 41
    • 59149096726 scopus 로고    scopus 로고
    • 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
    • Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, et al. (2009) 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 41: 160-162.
    • (2009) Nat Genet , vol.41 , pp. 160-162
    • Helbig, I.1    Mefford, H.C.2    Sharp, A.J.3    Guipponi, M.4    Fichera, M.5
  • 42
    • 6844240853 scopus 로고    scopus 로고
    • Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest
    • Johnson EW, Dubovsky J, Rich SS, O'Donovan CA, Orr HT, et al. (1998) Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet 7: 63-67.
    • (1998) Hum Mol Genet , vol.7 , pp. 63-67
    • Johnson, E.W.1    Dubovsky, J.2    Rich, S.S.3    O'Donovan, C.A.4    Orr, H.T.5
  • 43
    • 0026322427 scopus 로고
    • Inhibition and enhancement of eukaryotic gene expression by potential non-B DNA sequences
    • Delic J, Onclercq R, Moisan-Coppey M (1991) Inhibition and enhancement of eukaryotic gene expression by potential non-B DNA sequences. Biochem Biophys Res Commun 181: 818-826.
    • (1991) Biochem Biophys Res Commun , vol.181 , pp. 818-826
    • Delic, J.1    Onclercq, R.2    Moisan-Coppey, M.3
  • 44
    • 41149127813 scopus 로고    scopus 로고
    • Association study between interleukin 1 beta gene and epileptic disorders: A HuGe review and meta-analysis
    • Kauffman MA, Moron DG, Consalvo D, Bello R, Kochen S (2008) Association study between interleukin 1 beta gene and epileptic disorders: a HuGe review and meta-analysis. Genet Med 10: 83-88.
    • (2008) Genet Med , vol.10 , pp. 83-88
    • Kauffman, M.A.1    Moron, D.G.2    Consalvo, D.3    Bello, R.4    Kochen, S.5
  • 45
    • 41649094148 scopus 로고    scopus 로고
    • Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data
    • Dudbridge F (2008) Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data. Hum Hered 66: 87-98.
    • (2008) Hum Hered , vol.66 , pp. 87-98
    • Dudbridge, F.1
  • 46
    • 0025066941 scopus 로고
    • More powerful procedures for multiple significance testing
    • Hochberg Y, Benjamini Y (1990) More powerful procedures for multiple significance testing. Stat Med 9: 811-818.
    • (1990) Stat Med , vol.9 , pp. 811-818
    • Hochberg, Y.1    Benjamini, Y.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.