No association between the ryanodine receptor 3 gene and autism in a Japanese population.
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.
Tochigi
Mamoru
M
Department of Neuropsychiatry, Graduate School of Medicine, Univerisity of Tokyo, Bunkyo, Tokyo, Japan.
Kato
Chieko
C
Ohashi
Jun
J
Koishi
Shinko
S
Kawakubo
Yuki
Y
Yamamoto
Kenji
K
Matsumoto
Hideo
H
Hashimoto
Ohiko
O
Kim
Soo-Yung
SY
Watanabe
Keiichiro
K
Kano
Yukiko
Y
Nanba
Eiji
E
Kato
Nobumasa
N
Sasaki
Tsukasa
T
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*
D019837:Ryanodine Receptor Calcium Release Channel