No association between the ryanodine receptor 3 gene and autism in a Japanese population
| Autor: | Ohiko Hashimoto, Yukiko Kano, Tsukasa Sasaki, Keiichiro Watanabe, Kenji Yamamoto, Eiji Nanba, Nobumasa Kato, Jun Ohashi, Shinko Koishi, Soo-Yung Kim, Mamoru Tochigi, Hideo Matsumoto, Chieko Kato, Yuki Kawakubo |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Adolescent Genotype Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Linkage Disequilibrium Chromosome 15 Neurodevelopmental disorder Gene Frequency Japan Angelman syndrome mental disorders medicine Humans Heritability of autism Genetic Predisposition to Disease Allele Autistic Disorder Child Alleles Genetics Chromosomes Human Pair 15 General Neuroscience Ryanodine Receptor Calcium Release Channel General Medicine medicine.disease Developmental disorder Psychiatry and Mental health Genetics Population Phenotype Neurology Autism Female Neurology (clinical) |
| Zdroj: | Psychiatry and clinical neurosciences. 62(3) |
| ISSN: | 1440-1819 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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