title: No association between the ryanodine receptor 3 gene and autism in a Japanese population.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Neuropsychiatry, Graduate School of Medicine, Univerisity of Tokyo, Bunkyo, Tokyo, Japan.
authors.forename: Mamoru
authors.initials: M
authors.lastname: Tochigi
authors.forename: Chieko
authors.initials: C
authors.lastname: Kato
authors.forename: Jun
authors.initials: J
authors.lastname: Ohashi
authors.forename: Shinko
authors.initials: S
authors.lastname: Koishi
authors.forename: Yuki
authors.initials: Y
authors.lastname: Kawakubo
authors.forename: Kenji
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Hideo
authors.initials: H
authors.lastname: Matsumoto
authors.forename: Ohiko
authors.initials: O
authors.lastname: Hashimoto
authors.forename: Soo-Yung
authors.initials: SY
authors.lastname: Kim
authors.forename: Keiichiro
authors.initials: K
authors.lastname: Watanabe
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Kano
authors.forename: Eiji
authors.initials: E
authors.lastname: Nanba
authors.forename: Nobumasa
authors.initials: N
authors.lastname: Kato
authors.forename: Tsukasa
authors.initials: T
authors.lastname: Sasaki
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D007564:Japan; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel