No association between the ryanodine receptor 3 gene and autism in a Japanese population

• Published in: Psychiatry and clinical neurosciences Vol. 62; no. 3; pp. 341 - 344
• Main 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
• Format: Journal Article
• Language: English
• Published: Melbourne, Australia Blackwell Publishing Asia 01.06.2008; Blackwell Publishing
• Subjects: Adolescent; Adult; Alleles; association study; autism; Autistic Disorder - genetics; Biological and medical sciences; Child; Child clinical studies; chromosome 15; Chromosomes, Human, Pair 15 - genetics; Developmental disorders; Female; Gene Frequency - genetics; Genetic Predisposition to Disease - genetics; Genetics, Population; Genotype; Humans; Infantile autism; Japan; Linkage Disequilibrium - genetics; Male; Medical sciences; Phenotype; Polymorphism, Single Nucleotide - genetics; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; ryanodine receptor; Ryanodine Receptor Calcium Release Channel - genetics; single nucleotide polymorphism; Japan; Autism; Gene; Ryanodine receptor; association study; Genetics; Developmental disorder; Single nucleotide polymorphism; Genetic determinism; Japanese; chromosome 15
• ISSN: 1323-1316; 1440-1819; 1440-1819
• DOI: 10.1111/j.1440-1819.2008.01802.x

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.