title: Role of BDNF Val66Met functional polymorphism in temporal lobe epilepsy.
abstract: Various studies suggested that brain-derived neurotrophic factor (BDNF) gene polymorphisms contributed to the development of many neurological disorders. However, whether BDNF Val66Met polymorphism is associated with epilepsy remains controversial. In our study, we tried to investigate the effects of this functional polymorphism on the occurrence of temporal lobe epilepsy (TLE) and its clinical phenotypes. Case-control studies were employed to study the association between BDNF Val66Met polymorphism and TLE, as well as its clinical phenotypes, and magnetic resonance imaging examinations and voxel-based morphometry analyses were carried out for further study. Our results showed that the frequency of Met allele was found to be lower in the TLE patients compared with the control subjects (43.9% vs. 48.6%, P = 0.012, OR = 1.21, 95% CI = 1.04-1.41), and the frequency of Met66 allele carriers in the TLE with hippocampal sclerosis was significantly lower than those non-carriers (20.5% vs. 29.1%, P = 0.040). However, we failed to find the difference between different genotypes and hippocampal asymmetry. Our findings suggested that BDNF Val66Met polymorphism might be correlated with epileptogenesis, and Met66 allele might play a protective role against the occurrence of TLE.
authors.affiliation: a National Laboratory of Medical Molecular Biology , Institute of Basic Medical Science, Chinese Academy of Medical Science; School of Basic Medicine, Peking Union Medical College , Beijing, P.R. China.
authors.forename: Ning
authors.initials: N
authors.lastname: Shen
authors.affiliation: a National Laboratory of Medical Molecular Biology , Institute of Basic Medical Science, Chinese Academy of Medical Science; School of Basic Medicine, Peking Union Medical College , Beijing, P.R. China.
authors.forename: Xilin
authors.initials: X
authors.lastname: Zhu
authors.affiliation: b Department of Neurology, Xuanwu Hospital , Capital Medical University , Beijing , P.R. China.
authors.forename: Hua
authors.initials: H
authors.lastname: Lin
authors.affiliation: a National Laboratory of Medical Molecular Biology , Institute of Basic Medical Science, Chinese Academy of Medical Science; School of Basic Medicine, Peking Union Medical College , Beijing, P.R. China.
authors.forename: Jingyun
authors.initials: J
authors.lastname: Li
authors.affiliation: b Department of Neurology, Xuanwu Hospital , Capital Medical University , Beijing , P.R. China.
authors.forename: Liping
authors.initials: L
authors.lastname: Li
authors.affiliation: a National Laboratory of Medical Molecular Biology , Institute of Basic Medical Science, Chinese Academy of Medical Science; School of Basic Medicine, Peking Union Medical College , Beijing, P.R. China.
authors.forename: Fenghe
authors.initials: F
authors.lastname: Niu
authors.affiliation: b Department of Neurology, Xuanwu Hospital , Capital Medical University , Beijing , P.R. China.
authors.forename: Aihua
authors.initials: A
authors.lastname: Liu
authors.affiliation: a National Laboratory of Medical Molecular Biology , Institute of Basic Medical Science, Chinese Academy of Medical Science; School of Basic Medicine, Peking Union Medical College , Beijing, P.R. China.
authors.forename: Xiaopan
authors.initials: X
authors.lastname: Wu
authors.affiliation: b Department of Neurology, Xuanwu Hospital , Capital Medical University , Beijing , P.R. China.
authors.forename: Yuping
authors.initials: Y
authors.lastname: Wang
authors.affiliation: a National Laboratory of Medical Molecular Biology , Institute of Basic Medical Science, Chinese Academy of Medical Science; School of Basic Medicine, Peking Union Medical College , Beijing, P.R. China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D019208:Brain-Derived Neurotrophic Factor / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D004833:Epilepsy, Temporal Lobe / Q000235:genetics* / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006624:Hippocampus / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D019208:Brain-Derived Neurotrophic Factor
keywords: BDNF; association; endophenotype; polymorphism; temporal lobe epilepsy (TLE)