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No association between the ryanodine receptor 3 gene and autism in a Japanese population |
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| Authors: | Tochigi Mamoru Kato Chieko Ohashi Jun Koishi Shinko Kawakubo Yuki Yamamoto Kenji Matsumoto Hideo Hashimoto Ohiko Kim Soo-Yung Watanabe Keiichiro Kano Yukiko Nanba Eiji Kato Nobumasa Sasaki Tsukasa |
| Affiliation: | Department of Neuropsychiatry,;Department of Human Genetics, Graduate School of Medicine,;Health Service Center, University of Tokyo, Bunkyo, Tokyo,;Department of Psychiatry, Tokai University School of Medicine, Isehara, Kanagawa,;Department of Medical Technology, Aino University, Ibaraki, Osaka, and;Gene Research Center, Tottori University, Yonago, Tottori, Japan |
| Abstract: | Aim: Autism is a neurodevelopmental disorder with a complex genetic etiology. Chromosome 15q11-q14 has been proposed to harbor a gene for autism susceptibility because deletion of the region leads to Prader-Willi syndrome or Angelman syndrome, having phenotypic overlap with autism. Here we studied the association between autism and the ryanodine receptor 3 (RyR3) gene, which is located in the region. This is the first study, to our knowledge, that has investigated the association. Methods: We genotyped 14 tag single nucleotide polymorphisms (SNPs) in 166 Japanese patients with autism and 375 controls. Results: No significant difference was observed between the patients and controls in allelic frequencies or genotypic distributions of the 14 SNPs. Analysis after confining the subjects to males showed similar results. Conclusions: The present study provides no positive evidence for the association between the RyR3 gene and autism in the Japanese population. |
| Keywords: | association study autism chromosome 15 ryanodine receptor single nucleotide polymorphism |
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