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No association between the ryanodine receptor 3 gene and autism in a Japanese population
Author(s) -
Tochigi Mamoru,
Kato Chieko,
Ohashi Jun,
Koishi Shinko,
Kawakubo Yuki,
Yamamoto Kenji,
Matsumoto Hideo,
Hashimoto Ohiko,
Kim SooYung,
Watanabe Keiichiro,
Kano Yukiko,
Nanba Eiji,
Kato Nobumasa,
Sasaki Tsukasa
Publication year - 2008
Publication title -
psychiatry and clinical neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.609
H-Index - 74
eISSN - 1440-1819
pISSN - 1323-1316
DOI - 10.1111/j.1440-1819.2008.01802.x
Subject(s) - autism , single nucleotide polymorphism , genetics , neurodevelopmental disorder , angelman syndrome , genotype , genetic association , allele , autism spectrum disorder , heritability of autism , gene , biology , medicine , phenotype , psychiatry
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.