Rare and common autism risk variants converge across 16p.
Rare and common autism risk variants converge across 16p.
复制标题
罕见和常见的自闭症风险变异在 16p 期间趋同。
DOI：
10.1038/s41588-022-01219-4
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发表时间：
2022
期刊：
影响因子：
30.8
通讯作者：
Jacquemont,Sébastien
中科院分区：
文献类型：
--
作者：
Won,Hyejung;Huguet,Guillaume;Jacquemont,Sébastien
自闭症的遗传风险因素包括罕见和常见的变异。一项研究表明，导致自闭症风险的罕见拷贝数变异和16p上的常见变异在功能上会聚在一起，下调了16p亚端粒区域中一大群神经元表达基因的表达。
Genetic risk factors for autism include both rare and common variants. A study shows that rare copy number variants and common variants across 16p that contribute to autism risk functionally converge to downregulate the expression of a large group of neuronally expressed genes in the 16p subtelomeric region.