Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nat Neurosci. 2019 Dec;22(12):1961-1965. doi: 10.1038/s41593-019-0527-8. Epub 2019 Nov 25.
The exome sequences of approximately 8,000 children with autism spectrum disorder (ASD) and/or attention deficit hyperactivity disorder (ADHD) and 5,000 controls were analyzed, finding that individuals with ASD and individuals with ADHD had a similar burden of rare protein-truncating variants in evolutionarily constrained genes, both significantly higher than controls. This motivated a combined analysis across ASD and ADHD, identifying microtubule-associated protein 1A (MAP1A) as a new exome-wide significant gene conferring risk for childhood psychiatric disorders.
对大约 8000 名自闭症谱系障碍 (ASD) 和/或注意缺陷多动障碍 (ADHD) 儿童和 5000 名对照者的外显子组序列进行了分析，发现 ASD 个体和 ADHD 个体在进化受限基因中具有相似的罕见蛋白截断变异负担，均显著高于对照者。这促使我们对 ASD 和 ADHD 进行了联合分析，确定微管相关蛋白 1A (MAP1A) 为一个新的外显子全基因组显著基因，可导致儿童期精神障碍的发生风险。
