作者
Jack M Fu, F Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L Collins, Shan Dong, Brie Wamsley, Lambertus Klei, Lily Wang, Stephanie P Hao, Christine R Stevens, Caroline Cusick, Mehrtash Babadi, Eric Banks, Brett Collins, Sheila Dodge, Stacey B Gabriel, Laura Gauthier, Samuel K Lee, Lindsay Liang, Alicia Ljungdahl, Behrang Mahjani, Laura Sloofman, Andrey N Smirnov, Mafalda Barbosa, Catalina Betancur, Alfredo Brusco, Brian HY Chung, Edwin H Cook, Michael L Cuccaro, Enrico Domenici, Giovanni Battista Ferrero, J Jay Gargus, Gail E Herman, Irva Hertz-Picciotto, Patricia Maciel, Dara S Manoach, Maria Rita Passos-Bueno, Antonio M Persico, Alessandra Renieri, James S Sutcliffe, Flora Tassone, Elisabetta Trabetti, Gabriele Campos, Simona Cardaropoli, Diana Carli, Marcus CY Chan, Chiara Fallerini, Elisa Giorgio, Ana Cristina Girardi, Emily Hansen-Kiss, So Lun Lee, Carla Lintas, Yunin Ludena, Rachel Nguyen, Lisa Pavinato, Margaret Pericak-Vance, Isaac N Pessah, Rebecca J Schmidt, Moyra Smith, Claudia IS Costa, Slavica Trajkova, Jaqueline YT Wang, Mullin HC Yu, Broad Institute Center for Common Disease Genomics (Broad-CCDG), iPSYCH-BROAD Consortium, David J Cutler, Silvia De Rubeis, Joseph D Buxbaum, Mark J Daly, Bernie Devlin, Kathryn Roeder, Stephan J Sanders, Michael E Talkowski
发表日期
2022/9
期刊
Nature genetics
卷号
54
期号
9
页码范围
1320-1331
出版商
Nature Publishing Group US
简介
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from joint analysis of protein-truncating variants (PTVs), missense variants and copy number variants (CNVs) in a cohort of 63,237 individuals. We discovered 72 genes associated with ASD at false discovery rate (FDR) ≤ 0.001 (185 at FDR ≤ 0.05). De novo PTVs, damaging missense variants and CNVs represented 57.5%, 21.1% and 8.44% of association evidence, while CNVs conferred greatest relative risk. Meta-analysis with cohorts ascertained for developmental delay (DD) (n = 91,605) yielded 373 genes associated with ASD/DD at FDR ≤ 0.001 (664 at FDR ≤ 0.05), some of which differed in relative frequency of mutation between ASD and DD cohorts. The DD-associated genes were enriched in transcriptomes of …
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JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins… - Nature genetics, 2022