The Genetics of Autism
The Genetics of Autism
复制标题
DOI：
10.1002/9780470015902.a0021455.pub2
复制
发表时间：
2017-10
期刊：
影响因子：
--
通讯作者：
V. Warrier;S. Baron-Cohen
中科院分区：
文献类型：
--
作者：
V. Warrier;S. Baron-Cohen
自闭症谱系病症（以下简称“自闭症”）是指一组神经发育病症，涉及社交互动和沟通困难以及异常重复和受限的行为和兴趣。双胞胎和家庭研究已经确定了自闭症的显着遗传性。自闭症是多基因的，等位基因频谱的变化会增加风险。早期连锁和候选基因关联研究在统计学上不足以识别显着位点。目前的全基因组关联研究已经发现自闭症与各种认知测量之间存在显着的正向遗传相关性。基因微阵列和下一代 DNA 测序的使用已经鉴定出数十种与自闭症相关的基因和拷贝数变异。此外，对死后大脑样本的RNA微阵列和测序研究已经确定了自闭症中转录改变的基因和通路。多种证据集中在神经胶质、突触和染色质通路的改变会导致自闭症风险。
Autism spectrum conditions (henceforth ‘autism’) refer to a group of neurodevelopmental conditions involving difficulties in social interaction and communication and unusually repetitive and restricted behaviours and interest. Twin and family studies have established a significant heritability for autism. Autism is polygenic with variations across the allele frequency spectrum contributing to risk. Early linkage and candidate gene association studies were statistically underpowered to identify significant loci. Current genome-wide association studies have identified significant positive genetic correlation between autism and various measures of cognition. The use of genetic microarrays and next-generation DNA sequencing has identified tens of genes and copy number variants associated with autism. In addition, RNA microarray and sequencing studies of postmortem brain samples have identified transcriptionally altered genes and pathways in autism. Multiple lines of evidence converge on altered glial, synaptic and chromatin pathways as contributing to autism risk.