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注意缺陷多动障碍与精神分裂症和自闭症谱系障碍共享拷贝数变异风险。

Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder.

机构信息

deCODE genetics/Amgen, Reykjavík, Iceland.

Faculty of Medicine, University of Iceland, Reykjavík, Iceland.

出版信息

Transl Psychiatry. 2019 Oct 17;9(1):258. doi: 10.1038/s41398-019-0599-y.

DOI:10.1038/s41398-019-0599-y
PMID:31624239
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6797719/
Abstract

Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable common childhood-onset neurodevelopmental disorder. Some rare copy number variations (CNVs) affect multiple neurodevelopmental disorders such as intellectual disability, autism spectrum disorders (ASD), schizophrenia and ADHD. The aim of this study is to determine to what extent ADHD shares high risk CNV alleles with schizophrenia and ASD. We compiled 19 neuropsychiatric CNVs and test 14, with sufficient power, for association with ADHD in Icelandic and Norwegian samples. Eight associate with ADHD; deletions at 2p16.3 (NRXN1), 15q11.2, 15q13.3 (BP4 & BP4.5-BP5) and 22q11.21, and duplications at 1q21.1 distal, 16p11.2 proximal, 16p13.11 and 22q11.21. Six of the CNVs have not been associated with ADHD before. As a group, the 19 CNVs associate with ADHD (OR = 2.43, P = 1.6 × 10), even when comorbid ASD and schizophrenia are excluded from the sample. These results highlight the pleiotropic effect of the neuropsychiatric CNVs and add evidence for ADHD, ASD and schizophrenia being related neurodevelopmental disorders rather than distinct entities.

摘要

注意缺陷多动障碍（ADHD）是一种高度遗传性的常见儿童期发病的神经发育障碍。一些罕见的拷贝数变异（CNVs）影响多种神经发育障碍，如智力障碍、自闭症谱系障碍（ASD）、精神分裂症和 ADHD。本研究的目的是确定 ADHD 与精神分裂症和 ASD 共享高风险 CNV 等位基因的程度。我们编译了 19 种神经精神 CNVs，并在冰岛和挪威样本中对其中 14 种具有足够效力的 CNVs 进行了关联分析。其中 8 种与 ADHD 相关；2p16.3（NRXN1）、15q11.2、15q13.3（BP4 和 BP4.5-BP5）和 22q11.21 的缺失，以及 1q21.1 远端、16p11.2 近端、16p13.11 和 22q11.21 的重复。这 6 种 CNVs 以前与 ADHD 没有关联。作为一个整体，这 19 种 CNVs 与 ADHD 相关（OR=2.43，P=1.6×10），即使在排除样本中的共患 ASD 和精神分裂症后也是如此。这些结果突出了神经精神 CNVs 的多效性，并为 ADHD、ASD 和精神分裂症是相关的神经发育障碍而不是不同的实体提供了证据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3ab8/6797719/edcfcdd2f8b8/41398_2019_599_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3ab8/6797719/edcfcdd2f8b8/41398_2019_599_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3ab8/6797719/edcfcdd2f8b8/41398_2019_599_Fig1_HTML.jpg

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