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  • Title: No association between the ryanodine receptor 3 gene and autism in a Japanese population.
    Author: Tochigi M, Kato C, Ohashi J, Koishi S, Kawakubo Y, Yamamoto K, Matsumoto H, Hashimoto O, Kim SY, Watanabe K, Kano Y, Nanba E, Kato N, Sasaki T.
    Journal: Psychiatry Clin Neurosci; 2008 Jun; 62(3):341-4. PubMed ID: 18588595.
    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.
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