title: Genetic analyses of the brain-derived neurotrophic factor (BDNF) gene in autism.
abstract: Autism is a severe neurodevelopmental disorder defined by social and communication deficits and ritualistic-repetitive behaviors that are detectable in early childhood. Brain-derived neurotrophic factor (BDNF) plays a critical role in the pathogenesis of autism. In this study, we examined the SNP- and haplotypic-association of BDNF with autism in a trios-based association study (the Autism Genetic Resource Exchange). We also examined the expression of BDNF mRNA in the peripheral blood lymphocytes of drug-naïve autism patients and control subjects. In the TDT of autism trios, the SNP haplotype combinations showed significant associations in the autism group. BDNF expression in the drug-naïve autistic group was found to be significantly higher than in the control group. We suggest that BDNF has a possible role in the pathogenesis of autism through its neurotrophic effects on the serotonergic system.
authors.affiliation: Department of Psychiatry and Neurology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Nishimura
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Nakamura
authors.forename: A
authors.initials: A
authors.lastname: Anitha
authors.forename: Kazuo
authors.initials: K
authors.lastname: Yamada
authors.forename: Masatsugu
authors.initials: M
authors.lastname: Tsujii
authors.forename: Yoshimi
authors.initials: Y
authors.lastname: Iwayama
authors.forename: Eiji
authors.initials: E
authors.lastname: Hattori
authors.forename: Tomoko
authors.initials: T
authors.lastname: Toyota
authors.forename: Nori
authors.initials: N
authors.lastname: Takei
authors.forename: Taishi
authors.initials: T
authors.lastname: Miyachi
authors.forename: Yasuhide
authors.initials: Y
authors.lastname: Iwata
authors.forename: Katsuaki
authors.initials: K
authors.lastname: Suzuki
authors.forename: Hideo
authors.initials: H
authors.lastname: Matsuzaki
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Kawai
authors.forename: Yoshimoto
authors.initials: Y
authors.lastname: Sekine
authors.forename: Kenji
authors.initials: K
authors.lastname: Tsuchiya
authors.forename: Gen-ichi
authors.initials: G
authors.lastname: Sugihara
authors.forename: Shiro
authors.initials: S
authors.lastname: Suda
authors.forename: Yasuomi
authors.initials: Y
authors.lastname: Ouchi
authors.forename: Toshiro
authors.initials: T
authors.lastname: Sugiyama
authors.forename: Takeo
authors.initials: T
authors.lastname: Yoshikawa
authors.forename: Norio
authors.initials: N
authors.lastname: Mori
mesh_terms: D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D019208:Brain-Derived Neurotrophic Factor / Q000235:genetics*; D002648:Child; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D009679:Nuclear Family; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D019208:Brain-Derived Neurotrophic Factor; D012333:RNA, Messenger