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Updated: Jul 4, 2026
Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
No association between the ryanodine receptor 3 gene and autism in a Japanese population
Mamoru Tochigi1, Chieko Kato, Jun Ohashi
1Department of Neuropsychiatry, Graduate School of Medicine, Univerisity of Tokyo, Bunkyo, Tokyo, Japan.
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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