title: SNP analyses of growth factor genes EGF, TGFbeta-1, and HGF reveal haplotypic association of EGF with autism.
abstract: Autism is a pervasive neurodevelopmental disorder diagnosed in early childhood. Growth factors have been found to play a key role in the cellular differentiation and proliferation of the central and peripheral nervous systems. Epidermal growth factor (EGF) is detected in several regions of the developing and adult brain, where, it enhances the differentiation, maturation, and survival of a variety of neurons. Transforming growth factor-beta (TGFbeta) isoforms play an important role in neuronal survival, and the hepatocyte growth factor (HGF) has been shown to exhibit neurotrophic activity. We examined the association of EGF, TGFbeta1, and HGF genes with autism, in a trio association study, using DNA samples from families recruited to the Autism Genetic Resource Exchange; 252 trios with a male offspring scored for autism were selected for the study. Transmission disequilibrium test revealed significant haplotypic association of EGF with autism. No significant SNP or haplotypic associations were observed for TGFbeta1 or HGF. Given the role of EGF in brain and neuronal development, we suggest a possible role of EGF in the pathogenesis of autism.
authors.affiliation: Department of Psychiatry and Neurology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
authors.forename: Takao
authors.initials: T
authors.lastname: Toyoda
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Nakamura
authors.forename: Kazuo
authors.initials: K
authors.lastname: Yamada
authors.forename: Ismail
authors.initials: I
authors.lastname: Thanseem
authors.forename: Ayyappan
authors.initials: A
authors.lastname: Anitha
authors.forename: Shiro
authors.initials: S
authors.lastname: Suda
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: 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: Yasuomi
authors.initials: Y
authors.lastname: Ouchi
authors.forename: Toshiro
authors.initials: T
authors.lastname: Sugiyama
authors.forename: Nori
authors.initials: N
authors.lastname: Takei
authors.forename: Takeo
authors.initials: T
authors.lastname: Yoshikawa
authors.forename: Norio
authors.initials: N
authors.lastname: Mori
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D004815:Epidermal Growth Factor / Q000235:genetics*; D006239:Haplotypes; D017228:Hepatocyte Growth Factor / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: D053773:Transforming Growth Factor beta1; D004815:Epidermal Growth Factor; D017228:Hepatocyte Growth Factor