在日本人群中，兰尼碱受体3基因与自闭症之间无关联。
No association between the ryanodine receptor 3 gene and autism in a Japanese population.
作者信息
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
机构信息
Department of Neuropsychiatry, Graduate School of Medicine, Univerisity of Tokyo, Bunkyo, Tokyo, Japan.
出版信息
Psychiatry Clin Neurosci. 2008 Jun;62(3):341-4. 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.
目的
自闭症是一种具有复杂遗传病因的神经发育障碍。15号染色体q11 - q14区域被认为含有自闭症易感性基因，因为该区域的缺失会导致普拉德-威利综合征或安吉尔曼综合征，这些综合征与自闭症存在表型重叠。在此，我们研究了位于该区域的兰尼碱受体3（RyR3）基因与自闭症之间的关联。据我们所知，这是第一项研究这种关联的研究。
方法
我们对166名日本自闭症患者和375名对照进行了14个标签单核苷酸多态性（SNP）的基因分型。
结果
在14个SNP的等位基因频率或基因型分布上，患者与对照之间未观察到显著差异。将研究对象限定为男性后的分析显示了相似的结果。
结论
本研究未提供RyR3基因与日本人群自闭症之间存在关联的阳性证据。
Zotero 插件