Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants.,Nature Neuroscience

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Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants.
Nature Neuroscience ( IF 25.0 ) Pub Date : 2019-11-25 , DOI: 10.1038/s41593-019-0527-8
F Kyle Satterstrom _{1,

2,

3} , Raymond K Walters _{1,

2,

3} , Tarjinder Singh _{1,

2,

3} , Emilie M Wigdor _{1,

2,

3} , Francesco Lescai _{4,

5,

6} , Ditte Demontis _{4,

5,

6} , Jack A Kosmicki _{1,

2,

3} , Jakob Grove _{4,

5,

6,

7} , Christine Stevens ₁ , Jonas Bybjerg-Grauholm _{4,

8} , Marie Bækvad-Hansen _{4,

8} , Duncan S Palmer _{1,

2,

3} , Julian B Maller _{1,

2,

3} , , Merete Nordentoft _{4,

9} , Ole Mors _{4,

10} , Elise B Robinson _{1,

2,

3,

11} , David M Hougaard _{4,

8} , Thomas M Werge _{4,

12,

13} , Preben Bo Mortensen _{4,

5,

14,

15} , Benjamin M Neale _{1,

2,

3,

16} , Anders D Børglum _{4,

5,

6} , Mark J Daly _{1,

2,

3,

16,

17}

Affiliation

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
iSEQ, Centre for Integrative Sequencing, Aarhus University, Aarhus, Denmark.
Department of Biomedicine-Human Genetics, Aarhus University, Aarhus, Denmark.
Bioinformatics Research Centre, Aarhus University, Aarhus, Denmark.
Centre for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark.
Mental Health Services in the Capital Region of Denmark, Mental Health Centre Copenhagen, University of Copenhagen, Copenhagen, Denmark.
Psychosis Research Unit, Aarhus University Hospital, Risskov, Denmark.
Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Mental Health Services Copenhagen, Roskilde, Denmark.
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
National Centre for Register-based Research, Aarhus University, Aarhus, Denmark.
Centre for Integrated Register-based Research, Aarhus University, Aarhus, Denmark.
Department of Medicine, Harvard Medical School, Boston, MA, USA.
Institute for Molecular Medicine Finland, HiLIFE, University of Helsinki, Helsinki, Finland.

The exome sequences of approximately 8,000 children with autism spectrum disorder (ASD) and/or attention deficit hyperactivity disorder (ADHD) and 5,000 controls were analyzed, finding that individuals with ASD and individuals with ADHD had a similar burden of rare protein-truncating variants in evolutionarily constrained genes, both significantly higher than controls. This motivated a combined analysis across ASD and ADHD, identifying microtubule-associated protein 1A (MAP1A) as a new exome-wide significant gene conferring risk for childhood psychiatric disorders.

中文翻译：

自闭症谱系障碍和注意力缺陷多动障碍具有相似的罕见蛋白质截断变异的负担。

分析了大约 8,000 名患有自闭症谱系障碍 (ASD) 和/或注意力缺陷多动障碍 (ADHD) 的儿童和 5,000 名对照的外显子组序列，发现患有 ASD 的个体和患有 ADHD 的个体在进化受限的基因，均显着高于对照。这激发了对 ASD 和 ADHD 的综合分析，将微管相关蛋白 1A (MAP1A) 确定为一种新的外显子组显着基因，可赋予儿童精神疾病的风险。

更新日期：2019-11-26

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