Unit on Statistical Genomics, Intramural Research Program, National Institute of Mental Health, National Institutes of Health Bethesda, MD, USA.
Front Genet. 2013 Oct 18;4:195. doi: 10.3389/fgene.2013.00195. eCollection 2013.
Autism spectrum disorders (ASD) comprise a number of underlying sub-types with various symptoms and presumably different genetic causes. One important difference between these sub-phenotypes is IQ. Some forms of ASD such as Asperger's have relatively intact intelligence while the majority does not. In this study, we explored the role of genetic factors that might account for this difference. Using a case-control study based on IQ status in 1657 ASD probands, we analyzed both common and rare variants provided by the Autism Genome Project (AGP) consortium via dbGaP (database of Genotypes and Phenotypes). We identified a set of genes, among them HLA-DRB1 and KIAA0319L, which are strongly associated with IQ within a population of ASD patients.
自闭症谱系障碍 (ASD) 包含多种具有不同症状和可能不同遗传原因的潜在亚型。这些亚型之间的一个重要区别是智商。一些 ASD 形式，如阿斯伯格症，具有相对完整的智力，而大多数则没有。在这项研究中，我们探讨了可能导致这种差异的遗传因素的作用。我们使用了一项基于 1657 名 ASD 先证者的智商状况的病例对照研究，通过 dbGaP（基因型和表型数据库）分析了自闭症基因组计划 (AGP) 联盟提供的常见和罕见变异。我们确定了一组基因，其中包括 HLA-DRB1 和 KIAA0319L，它们在 ASD 患者群体中与智商密切相关。
