Contributed equally to this study.
No association between the ryanodine receptor 3 gene and autism in a Japanese population
Article first published online: 28 JUN 2008
© 2008 The Authors. Journal compilation © 2008 Japanese Society of Psychiatry and Neurology
Psychiatry and Clinical Neurosciences
Volume 62, Issue 3, pages 341–344, June 2008
How to Cite
Tochigi, M., Kato, C., Ohashi, J., Koishi, S., Kawakubo, Y., Yamamoto, K., Matsumoto, H., Hashimoto, O., Kim, S.-Y., Watanabe, K., Kano, Y., Nanba, E., Kato, N. and Sasaki, T. (2008), No association between the ryanodine receptor 3 gene and autism in a Japanese population. Psychiatry and Clinical Neurosciences, 62: 341–344. doi: 10.1111/j.1440-1819.2008.01802.x
- Issue published online: 28 JUN 2008
- Article first published online: 28 JUN 2008
- Received 18 October 2007; revised 12 December 2007; accepted 4 January 2008.
- association study;
- chromosome 15;
- ryanodine receptor;
- single nucleotide polymorphism
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.