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本文引用的文献

1
Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants.自闭症谱系障碍和注意缺陷多动障碍具有相似的罕见蛋白截断变异负担。
Nat Neurosci. 2019 Dec;22(12):1961-1965. doi: 10.1038/s41593-019-0527-8. Epub 2019 Nov 25.
2
ADHD and later-life labor market outcomes in the United States.注意缺陷多动障碍与美国老年人劳动力市场的结果。
Eur J Health Econ. 2019 Sep;20(7):949-967. doi: 10.1007/s10198-019-01055-0. Epub 2019 May 2.
3
Dissociation of impulsivity and aggression in mice deficient for the ADHD risk gene Adgrl3: Evidence for dopamine transporter dysregulation.ADHD 风险基因 Adgrl3 缺陷小鼠的冲动和攻击行为分离:多巴胺转运体失调的证据。
Neuropharmacology. 2019 Sep 15;156:107557. doi: 10.1016/j.neuropharm.2019.02.039. Epub 2019 Mar 6.
4
Common Polygenic Variations for Psychiatric Disorders and Cognition in Relation to Brain Morphology in the General Pediatric Population.常见精神障碍和认知的多基因变异与一般儿科人群的大脑形态学的关系。
J Am Acad Child Adolesc Psychiatry. 2019 Jun;58(6):600-607. doi: 10.1016/j.jaac.2018.09.443. Epub 2019 Jan 9.
5
Predicting Polygenic Risk of Psychiatric Disorders.预测精神障碍的多基因风险。
Biol Psychiatry. 2019 Jul 15;86(2):97-109. doi: 10.1016/j.biopsych.2018.12.015. Epub 2018 Dec 28.
6
Polygenic risk scores: a biased prediction?多基因风险评分:有偏差的预测?
Genome Med. 2018 Dec 27;10(1):100. doi: 10.1186/s13073-018-0610-x.
7
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.发现首个与注意缺陷多动障碍全基因组显著相关的风险位点。
Nat Genet. 2019 Jan;51(1):63-75. doi: 10.1038/s41588-018-0269-7. Epub 2018 Nov 26.
8
Live fast, die young? A review on the developmental trajectories of ADHD across the lifespan.活得快,死得早?ADHD 一生发展轨迹综述。
Eur Neuropsychopharmacol. 2018 Oct;28(10):1059-1088. doi: 10.1016/j.euroneuro.2018.08.001. Epub 2018 Sep 6.
9
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.全基因组多基因疾病风险评分可识别出与单基因突变风险相当的个体。
Nat Genet. 2018 Sep;50(9):1219-1224. doi: 10.1038/s41588-018-0183-z. Epub 2018 Aug 13.
10
Association of Polygenic Risk for Attention-Deficit/Hyperactivity Disorder With Co-occurring Traits and Disorders.注意缺陷多动障碍多基因风险与共患特征和障碍的关联。
Biol Psychiatry Cogn Neurosci Neuroimaging. 2018 Jul;3(7):635-643. doi: 10.1016/j.bpsc.2017.11.013. Epub 2017 Dec 14.

ADHD 的遗传学:临床医生应该了解什么?

Genetics of ADHD: What Should the Clinician Know?

机构信息

Department of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital, Goethe University, Frankfurt, Germany.

出版信息

Curr Psychiatry Rep. 2020 Feb 27;22(4):18. doi: 10.1007/s11920-020-1141-x.

DOI:10.1007/s11920-020-1141-x
PMID:32108282
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7046577/
Abstract

PURPOSE OF REVIEW

Attention deficit hyperactivity disorder (ADHD) shows high heritability in formal genetic studies. In our review article, we provide an overview on common and rare genetic risk variants for ADHD and their link to clinical practice.

RECENT FINDINGS

The formal heritability of ADHD is about 80% and therefore higher than most other psychiatric diseases. However, recent studies estimate the proportion of heritability based on singlenucleotide variants (SNPs) at 22%. It is a matter of debate which genetic mechanisms explain this huge difference. While frequent variants in first mega-analyses of genome-wideassociation study data containing several thousand patients give the first genome-wide results, explaining only little variance, the methodologically more difficult analyses of rare variants are still in their infancy. Some rare genetic syndromes show higher prevalence for ADHD indicating a potential role for a small number of patients. In contrast, polygenic risk scores (PRS) could potentially be applied to every patient. We give an overview how PRS explain different behavioral phenotypes in ADHD and how they could be used for diagnosis and therapy prediction. Knowledge about a patient's genetic makeup is not yet mandatory for ADHD therapy or diagnosis. PRS however have been introduced successfully in other areas of clinical medicine, and their application in psychiatry will begin within the next years. In order to ensure competent advice for patients, knowledge of the current state of research is useful forpsychiatrists.

摘要

综述目的

在正式的遗传学研究中,注意力缺陷多动障碍(ADHD)显示出很高的遗传性。在我们的综述文章中,我们提供了 ADHD 的常见和罕见遗传风险变异及其与临床实践联系的概述。

最新发现

ADHD 的正式遗传率约为 80%,因此高于大多数其他精神疾病。然而,最近的研究估计基于单核苷酸变异(SNPs)的遗传率为 22%。哪种遗传机制解释了这种巨大差异仍存在争议。虽然包含数千名患者的全基因组关联研究数据的首次大型分析中的常见变异提供了第一个全基因组结果,仅能解释很小的方差,但更困难的稀有变异分析仍处于起步阶段。一些罕见的遗传综合征显示出更高的 ADHD 患病率,表明少数患者可能存在潜在作用。相比之下,多基因风险评分(PRS)可能适用于每个患者。我们概述了 PRS 如何解释 ADHD 中的不同行为表型,以及它们如何用于诊断和治疗预测。目前,患者的遗传构成知识对于 ADHD 治疗或诊断并非强制性的。然而,PRS 已在其他临床医学领域成功引入,它们在精神病学中的应用将在未来几年内开始。为了确保为患者提供有能力的建议,了解当前的研究状况对精神科医生很有用。