열성경련과 열성경련플러스(GEFS＋)에서 Brain-derived neurotrophic factor(BDNF) SNP 6265의 다형성
Brain-derived Neurotrophic Factor(BDNF) SNP 6265 Polymorphisms in Febrile Seizure and GEFS＋
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Purpose : Febrile seizure(FS) is one of the most common neurological conditions during childhood, but the pathogenesis of FS remains ambiguous. Various studies have shown that brain-derived neurotrophic factor(BDNF) increased neuronal excitability. In this study, to determine whether the polymorphisms of SNP 6265 within the gene encoding BDNF are associated with susceptibility to FS, the frequencies of the polymorphisms were investigated in children with FS and control subjects. In addition, we analyzed the SNP 6265 polymorphisms in Generalized epilepsy with febrile seizures plus (GEFS＋) that hasn't been studied as yet in Korea. Methods : A total of 79 children selected throughout a collaborative study of Catholic Child Neurology Research Group were divided into three groups: (1) FS(n=30); (2) GEFS＋ (n=19); (3) control subjects(n=30). Genotypes and allelic frequencies for the polymorphisms of SNP 6265 located at nucleotide 196 was analyzed and compared among the groups. Results : In this study, proportions for A homozygote, A/G heterozygote and G homozygote for BDNF were as follows: in FS, 46.7%, 36.7% and 16.7%, in GEFS＋, 26.3%, 47.4% and 26.3% and in control subjects, 60.0%, 16.7% and 23.3%. The allele A and G frequencies for BDNF in FS were 65.0% and 35.0%, in GEFS＋ were 50% and 50%, and in control subjects were 68.3% and 31.7%. However, these differences in genotype proportions and allele frequencies among three groups were not significant. Conclusion : These results suggest that genomic variations of BDNF might not be the susceptibility factor for FS and GEFS＋ in Korean population.
Abstract
Purpose : Febrile seizure(FS) is one of the most common neurological conditions during childhood, but the pathogenesis of FS remains ambiguous. Various studies have shown that brain-derived neurotrophic factor(BDNF) increased neuronal excitability. In this study, to determine whether the polymorphisms of SNP 6265 within the gene encoding BDNF are associated with susceptibility to FS, the frequencies of the polymorphisms were investigated in children with FS and control subjects. In addition, we analyzed the SNP 6265 polymorphisms in Generalized epilepsy with febrile seizures plus (GEFS＋) that hasn't been studied as yet in Korea. Methods : A total of 79 children selected throughout a collaborative study of Catholic Child Neurology Research Group were divided into three groups: (1) FS(n=30); (2) GEFS＋ (n=19); (3) control subjects(n=30). Genotypes and allelic frequencies for the polymorphisms of SNP 6265 located at nucleotide 196 was analyzed and compared among the groups. Results : In this study, proportions for A homozygote, A/G heterozygote and G homozygote for BDNF were as follows: in FS, 46.7%, 36.7% and 16.7%, in GEFS＋, 26.3%, 47.4% and 26.3% and in control subjects, 60.0%, 16.7% and 23.3%. The allele A and G frequencies for BDNF in FS were 65.0% and 35.0%, in GEFS＋ were 50% and 50%, and in control subjects were 68.3% and 31.7%. However, these differences in genotype proportions and allele frequencies among three groups were not significant. Conclusion : These results suggest that genomic variations of BDNF might not be the susceptibility factor for FS and GEFS＋ in Korean population.
참고문헌 (35)
- Toth Z., "Seizure-induced neuronal injury:vulnerability to febrile seizures in an immature rat model", J Neurosci, 18, pp.4285~4294 (1998)
- Dube C., "Prolonged febrile seizures in the immature rat model enhance hippocampal excitability long term", Ann Neurol, 47, pp.336~344 (2000)
- Rich S.S., "Complex segregation analysis of febrile convulsions", Am J Hum Genet, 41, pp.249~257 (1987)
- Isackson P.J., "Trophic factor response to neuronal stimuli or injury", Curr Opin Neurobiol, 5, pp.350~357 (1995)
- Gall C.M., "Seizure-induced changes in neurotrophin expression: implications for epilepsy", Exp Neurol, 124, pp.150~166 (1993)
- Kim Y.H., "The induction of BDNF and c-fos mRNA in the hippocampal formation after febrile seizures", Neuroreport, 12, pp.3243~3246 (2001)
- Egan M.F., "The BDNF val66met polymorphism affects activitydependent secretion of BDNF and human memory and hippocampal function", Cell, 112, pp.257~269 (2003)
- Lohoff F.W., "Lack of association between variations in the brainderived neurotrophic factor gene and temporal lobe epilepsy", Epilepsy Res, 66, pp.59~62 (2005)
- Chou I.C., "Brain-derived neurotrophic factor(BDNF) Val66-Met polymorphisms in febrile seizures", Epilepsy Res, 60, pp.27~29 (2004)
- Commission on Classification and Terminology of the International league Against Epilepsy, "Proposal for revised classification of epilepsies and epileptic syndromes", Epilepsia, 30, pp.389~399 (1989)
- Scheffer I.E., "Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes", Brain, 120, pp.479~490 (1997)
- Singh R., "Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome", Ann Neurol, 45, pp.75~81 (1999)
- Sen S., "A BDNF coding variant is associated with the NEO personality inventory domain neuroticism, a risk factor for depression", Neuropsychopharmacology, 28, pp.397~401 (2003)
- Barde Y.A., "Trophic factors and neuronal survival", Neuron, 2, pp.1525~1534 (1989)
- Huang E.J., "Neurotrophins: roles in neuronal development and function", Annu Rev Neurosci, 24, pp.677~736 (2001)
- Lindvall O., "Neurotrophins and brain insults", Trends Neurosci, 17, pp.490~496 (1994)
- Bengzon J., "Regulation of neurotrophin and trkA, trkB and trkC tyrosine kinase receptor messenger RNA expression in kindling", Neuroscience, 53, pp.433~446 (1993)
- Scharfman H.E., "Action of brain-derived neurotrophic factor in slices from rats with spontaneous seizures and mossy fiber sprouting in the dentate gyrus", J Neurosci, 19, pp.5619~5631 (1999)
- Elmer E., "Delayed kindling development after rapidly recurring seizures: relation to mossy fiber sprouting and neurotrophin, GAP-43 and dynorphin gene expression", Brain Res, 712, pp.19~34 (1996)
- Aronica E., "Expression of brain-derived neurotrophic factor and tyrosine kinase B receptor proteins in glioneuronal tumors from patients with intractable epilepsy: colocalization with N-methyl-aspartic acid receptor", Acta Neuropathol, 101, pp.383~392 (2001)
- Kanemoto K., "Association of partial epilepsy with brain-derived neurotrophic factor (BDNF) gene polymorphisms", Epilepsy Res, 53, pp.255~258 (2003)
- Binder D.K., "Scharfman HE. BDNF and epilepsy: too much of a good thing Trends", Neurosci, 24, pp.47~53 (2001)
- Scharfman H., "Does BDNF Contribute to Temporal Lobe Epilepsy", Epilepsy Curr, 2, pp.92~94 (2002)
- Binder D.K., "The role of BDNF in epilepsy and other diseases of the mature nervous system", Adv Exp Med Biol, 548, pp.34~56 (2004)
- Lindholm D., "Brain-derived neurotrophic factor and neurotrophin-4 increase neurotrophin-3 expression in the rat hippocampus", Int J Dev Neurosci, 12, pp.745~751 (1994)
- Nawa H., "BDNF protein measured by a novel enzyme immunoassay in normal brain and after seizure: partial disagreement with mRNA levels", Eur J Neurosci, 7, pp.1527~1535 (1995)
- Murray K.D., "Altered mRNA expression for brain-derived neurotrophic factor and type II calcium", calmodulindependent protein kinase in the hippocampus of patients with intractable temporal lobe epilepsy, 2000, pp.418, 411~422
- Zhu W.J., "Brain-derived neurotrophic factor enhances fast excitatory synaptic transmission in human epileptic dentate gyrus", Ann Neurol, 50, pp.188~194 (2001)
- Kokaia M., "Suppressed epileptogenesis in BDNF mutant mice", Exp Neurol, 133, pp.215~224 (1995)
- Kokaia Z., "Regulation of brain-derived neurotrophic factor gene expression after transient middle cerebral artery occlusion with and without brain damage", Exp Neurol, 136, pp.73~88 (1995)
- Momose Y., "Association studies of multiple candidate genes for Parkinson's disease using single nucleotide polymorphisms", Ann Neurol, 51, pp.133~136 (2002)
- Mowla S.J., "Biosynthesis andpost-translational processing of the precursor to brain-derived neurotrophic factor", J Biol Chem, 276, pp.12660~12666 (2001)
- Hall D., "Sequence variants of the brainderived neurotrophic factor(BDNF) gene are strongly associated with obsessive-compulsive disorder", Am J Hum Genet, 73, pp.370~376 (2003)
- Ribases M., "Association of BDNF with restricting anorexia nervosa and minimum body mass index: a familybased association study of eight European populations", Eur J Hum Genet, 13, pp.428~434 (2005)
- Jiang X., "BDNF variation and mood disorders: a novel functional promoter polymorphism and Val66Met are associated with anxiety but have opposing effects", Neuropsychopharmacology, 30, pp.1353~1361 (2005)