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《酒精中毒遗传学协作研究》:概述。

The Collaborative Study on the Genetics of Alcoholism: Overview.

机构信息

Department of Psychiatry, Washington University School of Medicine in St. Louis, St. Louis, Missouri, USA.

Department of Psychiatry, Rutgers Robert Wood Johnson Medical School, Piscataway, New Jersey, USA.

出版信息

Genes Brain Behav. 2023 Oct;22(5):e12864. doi: 10.1111/gbb.12864. Epub 2023 Sep 22.

Abstract

Alcohol use disorders (AUD) are commonly occurring, heritable and polygenic disorders with etiological origins in the brain and the environment. To outline the causes and consequences of alcohol-related milestones, including AUD, and their related psychiatric comorbidities, the Collaborative Study on the Genetics of Alcoholism (COGA) was launched in 1989 with a gene-brain-behavior framework. COGA is a family based, diverse (~25% self-identified African American, ~52% female) sample, including data on 17,878 individuals, ages 7-97 years, in 2246 families of which a proportion are densely affected for AUD. All participants responded to questionnaires (e.g., personality) and the Semi-Structured Assessment for the Genetics of Alcoholism (SSAGA) which gathers information on psychiatric diagnoses, conditions and related behaviors (e.g., parental monitoring). In addition, 9871 individuals have brain function data from electroencephalogram (EEG) recordings while 12,009 individuals have been genotyped on genome-wide association study (GWAS) arrays. A series of functional genomics studies examine the specific cellular and molecular mechanisms underlying AUD. This overview provides the framework for the development of COGA as a scientific resource in the past three decades, with individual reviews providing in-depth descriptions of data on and discoveries from behavioral and clinical, brain function, genetic and functional genomics data. The value of COGA also resides in its data sharing policies, its efforts to communicate scientific findings to the broader community via a project website and its potential to nurture early career investigators and to generate independent research that has broadened the impact of gene-brain-behavior research into AUD.

摘要

酒精使用障碍(AUD)是常见的、遗传性的和多基因疾病,其病因起源于大脑和环境。为了概述与酒精相关的里程碑事件(包括 AUD)及其相关的精神共病的原因和后果,合作酒精遗传学研究(COGA)于 1989 年启动,采用了基因-大脑-行为框架。COGA 是一个基于家庭的、多样化的(25%自我认定为非裔美国人,52%为女性)样本,包括 17878 名年龄在 7-97 岁的个体的数据,这些个体来自 2246 个家庭,其中一部分家庭 AUD 患者高度集中。所有参与者都回答了问卷(例如,个性)和半结构化酒精遗传学评估(SSAGA),该评估收集了有关精神诊断、状况和相关行为(例如,父母监督)的信息。此外,9871 人有脑电图(EEG)记录的大脑功能数据,而 12009 人有全基因组关联研究(GWAS)阵列的基因型。一系列功能基因组学研究检查了 AUD 背后的特定细胞和分子机制。这一概述为 COGA 在过去三十年中作为一个科学资源的发展提供了框架,个别综述提供了关于行为和临床、大脑功能、遗传和功能基因组学数据的深入描述。COGA 的价值还在于其数据共享政策、通过项目网站向更广泛的社区传播科学发现的努力,以及培养早期职业研究人员和产生独立研究的潜力,这些研究扩大了基因-大脑-行为研究对 AUD 的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d59/10550790/92bc34182014/GBB-22-e12864-g003.jpg

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