Genetic analyses of the brain-derived neurotrophic factor (BDNF) gene in autism.
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.
Nishimura
Katsuhiko
K
Department of Psychiatry and Neurology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Nakamura
Kazuhiko
K
Anitha
A
A
Yamada
Kazuo
K
Tsujii
Masatsugu
M
Iwayama
Yoshimi
Y
Hattori
Eiji
E
Toyota
Tomoko
T
Takei
Nori
N
Miyachi
Taishi
T
Iwata
Yasuhide
Y
Suzuki
Katsuaki
K
Matsuzaki
Hideo
H
Kawai
Masayoshi
M
Sekine
Yoshimoto
Y
Tsuchiya
Kenji
K
Sugihara
Gen-ichi
G
Suda
Shiro
S
Ouchi
Yasuomi
Y
Sugiyama
Toshiro
T
Yoshikawa
Takeo
T
Mori
Norio
N
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
D019208:Brain-Derived Neurotrophic Factor; D012333:RNA, Messenger