A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale.

纳入自闭症诊断访谈修订的自闭症全基因组关联研究 ，自闭症诊断观察时间表 ，和社会反应量表。

• 影响指数: 5.661
• 发表时间: Jan-Feb 2013
• 来源期刊: Child Dev
• DOI: 10.1111/j.1467-8624.2012.01838.x
• PMID: 22935194
• 文章类型: Journal Article
• 作者列表: Connolly JJ,Glessner JT,Hakonarson H

Mesh: Child Development Disorders, Pervasive / diagnosis genetics; Child, Preschool; Facial Expression; Female; Genes / genetics; Genome-Wide Association Study; Genotype; Humans; Interpersonal Relations; Interview, Psychological; Male; Phenotype; Play and Playthings; Polymorphism, Single Nucleotide / genetics; Psychiatric Status Rating Scales; Psychomotor Disorders / genetics; Seizures / genetics; Syncope / genetics

Abstract

Efforts to understand the causes of autism spectrum disorders (ASDs) have been hampered by genetic complexity and heterogeneity among individuals. One strategy for reducing complexity is to target endophenotypes, simpler biologically based measures that may involve fewer genes and constitute a more homogenous sample. A genome-wide association study of 2,165 participants (mean age = 8.95 years) examined associations between genomic loci and individual assessment items from the Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, and Social Responsiveness Scale. Significant associations with a number of loci were identified, including KCND2 (overly serious facial expressions), NOS2A (loss of motor skills), and NELL1 (faints, fits, or blackouts). These findings may help prioritize directions for future genomic efforts.