期刊
CURRENT OPINION IN PEDIATRICS
卷 27, 期 6, 页码 685-691出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MOP.0000000000000278
关键词
autism; exome sequencing; genetics; GWAS
类别
资金
- National Institute of Mental Health [1K01MH099286-02, 5U01MH094432-04]
Purpose of reviewThe recent explosion of genetic findings in autism spectrum disorder (ASD) research has improved knowledge of the disorder's underlying biology and etiologic architecture. This review introduces concepts and results from recent genetic studies and discusses the manner in which those findings can influence the trajectory of ASD research.Recent findingsLarge consortium studies have associated ASDs with many types of genetic risk factors, including common polygenic risk, de novo single nucleotide variants, copy number variants, and rare inherited variants. In aggregate, these results confirm the heterogeneity and complexity of ASDs. The rare variant findings in particular point to genes and pathways that begin to bridge the gap between behavior and biology.SummaryGenetic studies have the potential to identify the biological underpinnings of ASDs and other neuropsychiatric disorders. The data they generate are already being used to examine disease pathways and pathogenesis. The results also speak to ASD heterogeneity and, in the future, may be used to stratify research studies and treatment trials.
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