Genetic analyses of the brain-derived neurotrophic factor (BDNF) gene in autism

• DOI: 10.1016/j.bbrc.2007.02.135
• Publication Date: 2007-03-06T11:54:53Z
• Authors: Katsuhiko Nishimura; Kazuhiko Nakamura; A. Anitha; Kazuo Yamada; Masatsugu Tsujii; Yoshimi Iwayama; Eiji Hattori; Tomoko Toyota; Nori Takei; Taishi Miyachi; Yasuhide Iwata; Katsuaki Suzuki; Hideo Matsuzaki; Masayoshi Kawai; Yoshimoto Sekine; Kenji Tsuchiya; Gen-ichi Sugihara; Shiro Suda; Yasuomi Ouchi; Toshiro Sugiyama; Takeo Yoshikawa; Norio Mori
• Keywords: Adult; Male; 0301 basic medicine; Genotype; Reverse Transcriptase Polymerase Chain Reaction; Brain-Derived Neurotrophic Factor; Gene Expression; Polymorphism, Single Nucleotide; Linkage Disequilibrium; Nuclear Family; 3. Good health; 03 medical and health sciences; Gene Frequency; Haplotypes; Humans; Female; Lymphocytes; RNA, Messenger; Autistic Disorder; Child

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.