期刊
TRANSLATIONAL PSYCHIATRY
卷 12, 期 1, 页码 -出版社
SPRINGERNATURE
DOI: 10.1038/s41398-022-02033-6
关键词
-
类别
资金
- AMED [21wm0425007, JP21dm0207075, JP21dk0307103, JP21ek0109488, JP21km0405216, JP21ak0101113, JP21ak0101126, JP21ek0109486, JP21ek0109549, JP21ek0109493, JP20km0405214, P20dm0107090]
- Japan Society for the Promotion of Science (JSPS) KAKENHI [21H04815, 21H02848, 21H02855, JP20H05777, 20K20602, JP20K17936, JP19H03621, 18K15512, 18K07554, 18H04040]
This study indicates that rare variants related to synaptic function are associated with susceptibility to autism spectrum disorder (ASD) in the Japanese population, particularly in neurodevelopmental and synaptic function-related gene sets.
Autism spectrum disorder (ASD) is a highly heritable, complex disorder in which rare variants contribute significantly to disease risk. Although many genes have been associated with ASD, there have been few genetic studies of ASD in the Japanese population. In whole exomes from a Japanese ASD sample of 309 cases and 299 controls, rare variants were associated with ASD within specific neurodevelopmental gene sets, including highly constrained genes, fragile X mental retardation protein target genes, and genes involved in synaptic function, with the strongest enrichment in trans-synaptic signaling (p = 4.4 x 10(-4), Q-value = 0.06). In particular, we strengthen the evidence regarding the role of ABCA13, a synaptic function-related gene, in Japanese ASD. The overall results of this case-control exome study showed that rare variants related to synaptic function are associated with ASD susceptibility in the Japanese population.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据