SNP analyses of growth factor genes EGF, TGFbeta-1, and HGF reveal haplotypic association of EGF with autism |
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Authors: | Toyoda Takao Nakamura Kazuhiko Yamada Kazuo Thanseem Ismail Anitha Ayyappan Suda Shiro Tsujii Masatsugu Iwayama Yoshimi Hattori Eiji Toyota Tomoko Miyachi Taishi Iwata Yasuhide Suzuki Katsuaki Matsuzaki Hideo Kawai Masayoshi Sekine Yoshimoto Tsuchiya Kenji Sugihara Gen-ichi Ouchi Yasuomi Sugiyama Toshiro Takei Nori Yoshikawa Takeo Mori Norio |
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Affiliation: | Department of Psychiatry and Neurology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan. |
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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. |
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Keywords: | Epidermal growth factor Transforming growth factor Hepatocyte growth factor Autism AGRE Association study |
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