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Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis.分析生物行为、功能基因组和分子遗传学水平上 11 种主要精神疾病的遗传结构。
Nat Genet. 2022 May;54(5):548-559. doi: 10.1038/s41588-022-01057-4. Epub 2022 May 5.
2
The Genetic Architecture of Obsessive-Compulsive Disorder: Contribution of Liability to OCD From Alleles Across the Frequency Spectrum.强迫症的遗传结构:来自整个频率谱的等位基因对强迫症易感性的贡献。
Am J Psychiatry. 2022 Mar;179(3):216-225. doi: 10.1176/appi.ajp.2021.21010101. Epub 2021 Nov 18.
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Polygenic Heterogeneity Across Obsessive-Compulsive Disorder Subgroups Defined by a Comorbid Diagnosis.由共病诊断定义的强迫症亚组中的多基因异质性
Front Genet. 2021 Aug 31;12:711624. doi: 10.3389/fgene.2021.711624. eCollection 2021.
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A dimensional perspective on the genetics of obsessive-compulsive disorder.从维度角度看强迫症的遗传学。
Transl Psychiatry. 2021 Jul 21;11(1):401. doi: 10.1038/s41398-021-01519-z.
5
Exome sequencing in obsessive-compulsive disorder reveals a burden of rare damaging coding variants.外显子组测序在强迫症中揭示了罕见有害编码变异的负担。
Nat Neurosci. 2021 Aug;24(8):1071-1076. doi: 10.1038/s41593-021-00876-8. Epub 2021 Jun 28.
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Genetics of obsessive-compulsive disorder.强迫症的遗传学。
Psychol Med. 2021 Oct;51(13):2247-2259. doi: 10.1017/S0033291721001744. Epub 2021 May 25.
7
Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families.外显子组测序鉴定多发性家系中与妥瑞氏症相关的基因。
Mol Psychiatry. 2021 Nov;26(11):6937-6951. doi: 10.1038/s41380-021-01094-1. Epub 2021 Apr 9.
8
Investigating Shared Genetic Basis Across Tourette Syndrome and Comorbid Neurodevelopmental Disorders Along the Impulsivity-Compulsivity Spectrum.探讨抽动秽语综合征及共患神经发育障碍在冲动-强迫谱系上的共享遗传基础。
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近年来,我们对强迫症及相关障碍的遗传学有哪些了解?

What Have We Learned About the Genetics of Obsessive-Compulsive and Related Disorders in Recent Years?

作者信息

Mattheisen Manuel, Pato Michele T, Pato Carlos N, Knowles James A

机构信息

Department of Biomedicine, Aarhus University, Aarhus, Denmark (Mattheisen); Department of Psychiatry, Robert Wood Johnson Medical School and New Jersey Medical School, Rutgers University, Newark (M. Pato, C. Pato); Department of Cell Biology, SUNY Downstate Health Sciences University, Brooklyn, New York (Knowles).

出版信息

Focus (Am Psychiatr Publ). 2021 Oct;19(4):384-391. doi: 10.1176/appi.focus.20210017. Epub 2021 Nov 5.

DOI:10.1176/appi.focus.20210017
PMID:35747302
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9063570/
Abstract

Obsessive-compulsive disorder (OCD) is a complex, multifactorial disorder with onset in either childhood or early adulthood. Lifetime prevalence has been estimated to be around 2%-3%. groups OCD together with closely related disorders-body dysmorphic disorder, trichotillomania (hair-pulling disorder), hoarding disorder, and excoriation disorder (skin-picking disorder)-as obsessive-compulsive and related disorders (OCRDs). In addition, includes a "tic-related" specifier, recognizing that OCD and Tourette syndrome/chronic tics are frequently comorbid. In recent years, the first large-scale genome-wide studies of OCRDs have emerged. These studies confirmed results from earlier twin and family studies that have demonstrated a strong genetic component to OCRDs. Furthermore, from analyses of common genetic variation, these studies offered a first insight into how the genetic risk of developing an OCRD might be connected to the genetic risk of developing another OCRD. This article is an update of the authors' previous report; it summarizes recent findings on the genetics of OCRDs and highlights some of the recent directions in OCRD genetics that will pave the way for new insights into OCRD pathophysiology.

摘要

强迫症(OCD)是一种复杂的多因素疾病,发病于儿童期或成年早期。终生患病率估计约为2%-3%。将强迫症与密切相关的疾病——身体变形障碍、拔毛癖(拔毛障碍)、囤积障碍和搔抓障碍(抠皮障碍)归为强迫及相关障碍(OCRDs)。此外,还包括一个“与抽动相关”的说明符,认识到强迫症与妥瑞氏综合征/慢性抽动常常共病。近年来,出现了首批关于OCRDs的大规模全基因组研究。这些研究证实了早期双胞胎和家族研究的结果,这些研究表明OCRDs有很强的遗传成分。此外,通过对常见基因变异的分析,这些研究首次深入了解了患一种OCRD的遗传风险可能如何与患另一种OCRD的遗传风险相关联。本文是作者之前报告的更新;它总结了OCRDs遗传学的最新发现,并强调了OCRD遗传学的一些最新方向,这些方向将为深入了解OCRD病理生理学开辟道路。