Insights into Autism Spectrum Disorder Genomic Architecture and Biology   from 71 Risk Loci

doi:10.1016/j.neuron.2015.09.016

CORC > 北京大学 > 生命科学学院

	Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
	Sanders, Stephan J. ; Xin He ; Willsey, A. Jeremy ; Ercan-Sencicek, A. Gulhan ; Samocha, Kaitlin E. ; Cicek, A. Ercument ; Murtha, Michael T. ; Bal, Vanessa H. ; Bishop, Somer L. ; Shan Dong ; Goldberg, Arthur P. ; Cai Jinlu ; Keaney, John F., III ; Klei, Lambertus ; Mandell, Jeffrey D. ; Moreno-De-Luca, Daniel ; Poultney, Christopher S. ; Robinson, Elise B. ; Smith, Louw ; Solli-Nowlan, Tor ; Su, Mack Y. ; Teran, Nicole A. ; Walker, Michael F. ; Werling, Donna M. ; Beaudet, Arthur L. ; Cantor, Rita M. ; Fombonne, Eric ; Geschwind, Daniel H. ; Grice, Dorothy E.
刊名	NEURON
	2015
关键词	COPY-NUMBER VARIATION DE-NOVO MUTATIONS HIDDEN-MARKOV MODEL SNP GENOTYPING DATA TRUNCATING MUTATIONS STRUCTURAL VARIATION WILLIAMS-SYNDROME SIMPLEX AUTISM GENE RARE
DOI	10.1016/j.neuron.2015.09.016
英文摘要	Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published CNV data from the Autism Genome Project (AGP) and exome sequencing data from the SSC and the Autism Sequencing Consortium (ASC) shows that genes within small de novo deletions, but not within large dnCNVs, significantly overlap the high-effect risk genes identified by sequencing. Alternatively, large dnCNVs are found likely to contain multiple modest-effect risk genes. Overall, we find strong evidence that de novo mutations are associated with ASD apart from the risk for intellectual disability. Extending the transmission and de novo association test (TADA) to include small de novo deletions reveals 71 ASD risk loci, including 6 CNV regions (noted above) and 65 risk genes (FDR <= 0.1).; Simons Foundation (SFARI) [124827, 307705]; National Institute for Health/National Institute for Mental Health [MH100233, MH100229, MH100239, MH057881, MH100209, DC009410, MH074090, MH071584-07, MH19961-14]; Donita B. Sullivan MD Research Professorship funds; Howard Hughes Medical Institute (International Student Research Fellowship); Canadian Institutes of Health Research (Doctoral Foreign Study Award); ADOS; ADI-R from Western Psychological Services; SCI(E); PubMed; ARTICLE; stephan.sanders@ucsf.edu; matthew.state@ucsf.edu; 6; 1215-1233; 87
语种	中文
内容类型	期刊论文
源URL	[http://ir.pku.edu.cn/handle/20.500.11897/416154]
专题	生命科学学院
推荐引用方式 GB/T 7714	Sanders, Stephan J.,Xin He,Willsey, A. Jeremy,et al. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci[J]. NEURON,2015.
APA	Sanders, Stephan J..,Xin He.,Willsey, A. Jeremy.,Ercan-Sencicek, A. Gulhan.,Samocha, Kaitlin E..,...&Grice, Dorothy E..(2015).Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.NEURON.
MLA	Sanders, Stephan J.,et al."Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci".NEURON (2015).