NIAAA Repository/Screening Database Management and Research

NIAAA 存储库/筛选数据库管理和研究

• 批准号: 10253683
• 负责人: Melanie Schwandt
• 金额: $ 867.23万
• 依托单位: NATIONAL INSTITUTE ON ALCOHOL ABUSE AND ALCOHOLISM
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10253683
• 关键词: African American; Aggressive behavior; Alcohol abuse; Alcohol consumption; Alcohol dependence; Alcohol or Other Drugs use; Alcoholic Hepatitis; Alcoholism; Alcohols; Annual Reports; Anxiety; Archives; Australia; Back; Behavior; Biochemical; Biological Markers; C-reactive protein; Cannabinoids; Cardiovascular system; Characteristics; Chronic stress; Clinic; Clinical; Clinical Research; Collaborations; Collection; Compulsive Behavior; Consumption; DRD2 gene; DSM-IV; Data; Data Analyses; Database Management Systems; Databases; Deposition; Desire for food; Diagnosis; Disease; Dopamine; Eating Disorders; Electrocardiogram; Eligibility Determination; Emotional; Enrollment; Ensure; Environment; Epigenetic Process; Ethanol Metabolism; Ethnic Origin; Etiology; Evaluation; Factor Analysis; Feeling suicidal; Foundations; Future; GABA Transporter 1; GABBR2 gene; GLP-I receptor; Gender; Genes; Genetic; Genetic Diseases; Genetic Polymorphism; Genetic Risk; Genetic Variation; Genetic study; Genomics; Genotype; Goals; Heterogeneity; Hormones; Human; Human Genome; Immunoglobulins; Impulsivity; Indiana; Individual; Inflammation; Inpatients; Institutes; Investigation; Iron; LRRK2 gene; Laboratories; Laboratory Research; Leptin; Link; Liver; Major Depressive Disorder; Manuscripts; Measurement; Measures; Metabolic; Micronutrients; Monitor; National Institute of Drug Abuse; National Institute on Alcohol Abuse and Alcoholism; Natural History; Neurobiology; Outcome; Pain; Participant; Patients; Pattern; Peptide Receptor; Performance; Personality; Phenotype; Population; Predictive Value; Preparation; Protocols documentation; Psychiatric Diagnosis; Psychopathology; Public Health; Publications; Publishing; Quality of life; Race; Reporting; Research; Research Personnel; Research Project Grants; Resource Sharing; Resources; Rest; Rewards; Risk Factors; Role; SNP genotyping; Safety; Series; Severities; Signal Transduction; Sleep; Smoking; Standardization; Stress; Subgroup; Suicide; Therapeutic; Thyroid Hormones; TimeLine; Trauma; United States; United States National Institutes of Health; Universities; Update; Variant; Weight; Withdrawal; Work; addiction; admixture mapping; adverse childhood events; adverse outcome; alcohol effect; alcohol rehabilitation; alcohol response; alcohol risk; alcohol use disorder; anxiety symptoms; behavioral health; behavioral impairment; binge drinking; biobehavior; biological adaptation to stress; circadian; clinical care; comorbidity; craving; data sharing; depressive symptoms; discounting; dopamine transporter; drinking; drinking behavior; early life stress; epidemiology study; exome sequencing; falls; free behavior; gamma-Aminobutyric Acid; genetic variant; genome wide association study; genome-wide; genomic data; ghrelin; human data; hypocretin; imaging genetics; inpatient service; islet amyloid polypeptide; negative affect; nervous system disorder; neurogenetics; neuroimaging; pediatric trauma; perceived stress; phenotypic data; prevent; problem drinker; programs; psychogenetics; quality assurance; racial and ethnic disparities; receptor; relapse prediction; repository; resilience; response; reward anticipation; screening; screening program; sleep quality; trend; volunteer; water channel

As of this report, the NIAAA Repository/Screening Database includes phenotype and/or genomic data on 2900 individuals. Phenotype data include psychiatric diagnoses, a variety of alcohol-related assessments and measures including lifetime and recent consumption and alcohol response phenotypes, personality and impulsivity measures, depression and anxiety symptoms, current and early life stress and trauma, aggression, suicidality, smoking, IQ, sleep quality, pain, and overall quality of life. Laboratory/biochemical measures are also available. Genomic data include 1) large-scale single nucleotide polymorphism (SNP) genotyping performed using Illumina arrays, and 2) exome sequencing of a subset of subjects, both via a partnership between the Clinical Core Laboratory of the OCD, and the Laboratory of Neurogenetics (NIAAA). All NIAAA PIs are encouraged to submit data requests in order to conduct research projects and analyses using the shared NIAAA Repository/Screening Database. Projects are logged and the status is tracked from initial request to manuscript publication. In addition, Human and Genomic data are shared via BTRIS and other mechanisms, including collaboration with NIH-supported consortia (PGC Alcoholism, ENIGMA) to ensure data sharing. I. Projects (6) resulting in manuscripts published within the past year: Obsessive craving as a predictor of suicidal ideation in alcohol dependent inpatients Effects of TSPO genotype on perceived stress, anxiety, and alcohol drinking behavior Impaired control, suggestibility and alcohol-related outcomes (2 publications) Genetics and epigenetics of the dopamine transporter (DAT) in alcohol use disorder (2 publications) Genome wide association studies of the Self-Rating of Effects of Ethanol (SRE) (external collaboration) Shared genetic risk between eating disorder- and substance-use-related phenotypes (external collaboration) II. Projects (2) resulting in manuscript submissions, revisions, or publications in press, within the past year: Effects of the orexin (hypocretin) receptor 2 gene polymorphism Val308Ile on severity of alcohol dependence and stress response in alcohol-dependent subjects Phenotypic and genotypic relationships characterizing type and severity of alcohol use responses III. Projects (12) with manuscripts in preparation: Neurofunctional domains in alcohol use disorder predict multiple adverse outcomes linked to addiction Reporting of adverse childhood events as a function of race/ethnicity and gender and their influence on drinking behaviors Free peptide and receptor genotype of the appetitive hormones, leptin and amylin, and their association with alcohol-related phenotypes Predictive value of anxiety scales in alcohol dependent patients Binge drinking behavior as a function of risk factors for alcohol use disorder (2 manuscripts) Role of current stress and perceived stress in alcohol-dependence severity and quality of life: an update to the study of childhood trauma in alcohol use disorder The role of C-Reactive protein in alcohol use disorder An imaging genetics study of the prepro-ghrelin and glucagon-like peptide-1 receptor gene variants in alcohol use disorder Electrocardiogram and other cardiovascular indicators of at-risk alcohol drinking Role of circadian and cannabinoid genes in Sleep and AUD An Investigation into the Role of Metabolic Biomarkers in the Anticipation of Reward in Treatment Seeking Alcoholics The relationship between CNR1 polymorphisms and alcohol abuse IV. Ongoing projects (11) still in progress: GABA (GABBR1 and GABBR2) and GABA transporter 1 (GAT1) genetic variation in alcoholism and alcohol-related phenotypes. Data analyses are ongoing. Comparison of resting state functional connectivity, alcohol consumption patterns, and CASE behavior as a function of CHRNA5 genotype. Data analyses are ongoing Exome sequencing of alcoholic inpatients with low and high withdrawal. Initial sequencing is complete, additional sequencing is in progress, data analyses are ongoing. Association between LRRK2 gene and compulsive behavior in alcoholic patients. Data analyses are ongoing. Neurobiological substrates of racial/ethnic disparity in alcohol use disorder: characterization of vulnerability/resilience via imaging, genetics, and biobehavioral information. Data analyses are ongoing. Characterization of drinking patterns in alcohol use disorder by Timeline Follow-Back variability analysis: association with craving, other substance use, psychopathology, and alcohol-related liver conditions. Data analyses are ongoing. Association between dopaminergic genetic variation and IV alcohol consumption in the lab and in the field. Data analyses are ongoing. PNPLA3, drinking behavior, and metabolic parameters in alcoholics. Data analyses are ongoing. Connor-Davidson Resilience Scale (CDRS): association with childhood trauma, alcohol-related outcomes and psychopathology. Data analyses in progress. Phenotypic differences in reward, pain, and negative affect measures in individuals with genetic variation in expression of OPRM1. Data analyses are ongoing. Association between FXYD2 and DRD2 genes and measures related to dopamine signaling in alcohol use disorder. Data analyses are ongoing. V. New projects (13) initiated within the past year: An evaluation of binge drinking definitions and measurement: assessing the importance of consumption duration Phenotypic and genotypic relationships between EKG markers and alcohol use responses Vital signs and circadian relationships to alcohol use responses Genetic variations in alcohol metabolism genes and alcohol-related phenotypes Analysis of weight trends and micronutrient stores in patients admitted to an inpatient alcohol rehabilitation program Association of amygdalar genes to negative emotionality in AUD and other addictive disorders Thyroid hormones, impulsivity, and severity of alcohol dependence Immunoglobulin levels in alcohol use disorder and their association with comorbid major depressive disorder and chronic stress Nicotinic alpha subunit effects on personality using confirmatory factor analysis Inflammation, iron loading, and sleep quality in AUD Genetic variance in the aquaporin gene and sleep quality in AUD Neurological predictors of relapse in alcohol use disorder Association of delayed reward discounting performance with dopaminergic gene variation in individuals across the spectrum of alcohol use and alcohol use disorder VI. Other Progress As a result of an established collaboration with the Psychiatric Genetics Consortium (PGC), a manuscript was published including data from the NIAAA Repository/Screening Database looking at shared genetic risk of substance use and eating disorder phenotypes. As a result of an established collaboration with Indiana University and the Centenary Institute in Australia, a manuscript was published including data from the NIAAA Repository/Screening Database, looking at genome-wide admixture mapping of DSM-IV alcohol dependence, criterion count, and the self-rating of the effects of ethanol in African American populations. A new collaboration was established with The Alcoholic Hepatitis Network project (AlcHepNet) to share data relevant to investigations of new treatments in alcoholic hepatitis.

在本报告时，NIAAA存储库/筛选数据库包括2900个个体的表型和/或基因组数据。表型数据包括精神病诊断，各种与酒精有关的评估以及措施，包括终生，最近的消费以及酒精反应表型，人格和冲动性措施，抑郁和焦虑症状，当前和早期的生命压力和创伤，侵略性，自杀，吸烟，吸烟，IQ ，睡眠质量，疼痛和整体生活质量。还提供实验室/生化措施。基因组数据包括1）使用Illumina阵列进行的大规模单核苷酸多态性（SNP）基因分型，以及2）受试者子集的外显子组测序，这是通过OCD的临床核心实验室之间的合作伙伴关系，以及神经基因的实验室（ NIAAA）。 鼓励所有NIAAA PI提交数据请求，以便使用共享的NIAAA存储库/筛选数据库进行研究项目和分析。已记录项目，并从初始请求到手稿出版物跟踪状态。此外，人类和基因组数据是通过BTRI和其他机制共享的，包括与NIH支持的财团（PGC酒精中毒，Enigma）的合作，以确保数据共享。 I.在过去一年中发表的手稿的项目（6）： 渴望作为依赖酒精的住院患者自杀意念的预测指标 TSPO基因型对感知的压力，焦虑和饮酒行为的影响 控制障碍，建议性和与酒精有关的结果受损（2个出版物） 饮酒障碍中多巴胺转运蛋白（DAT）的遗传学和表观遗传学（2个出版物） 基因组广泛关联研究乙醇（SRE）的自我评价（外部） 合作） 饮食失调和与物质使用相关的表型（外部协作）之间共同的遗传风险 ii。 （2）在过去的一年中导致手稿提交，修订或出版物的稿件： Orexin（低载染素）受体2基因多态性VAL308ILE对酒精依赖性的严重程度和依赖酒精依赖性受试者的应激反应的影响 表征酒精使用反应类型和严重程度的表型和基因型关系 iii。准备（12）手稿准备： 酒精使用障碍中的神经功能域预测了与成瘾有关的多种不利结果 报告不利的童年事件与种族/种族和性别的关系及其对饮酒行为的影响 食用激素，瘦素和淀粉蛋白的游离肽和受体基因型及其与酒精相关表型的关联 酒精依赖患者的焦虑量表的预测价值 暴饮暴食行为与酒精使用障碍的危险因素有关（2个手稿） 当前压力和感知压力在酒精依赖性严重程度和生活质量中的作用：对酒精使用障碍儿童创伤的研究更新 C反应蛋白在酒精使用障碍中的作用 在酒精使用障碍中，对前ghrelin和胰高血糖素样肽-1受体基因变异的成像遗传学研究 心电图和其他心血管饮用的心血管指标 昼夜节律基因在睡眠和AUD中的作用 对代谢生物标志物在寻求酗酒者的奖励中的作用的调查 CNR1多态性与酗酒之间的关系 iv。正在进行的项目（11）仍在进行中： GABA（GABBR1和GABBR2）和GABA转运蛋白1（GAT1）酒精中毒和与酒精相关的表型的遗传变异。数据分析正在进行中。 比较静止状态功能连通性，酒精消耗模式和病例行为与CHRNA5基因型的函数的比较。数据分析正在进行中 低戒烟和高戒烟的酒精住院患者测序。初始测序是完整的，正在进行其他测序，数据分析正在进行中。 酒精患者的LRRK2基因与强迫行为之间的关联。数据分析正在进行中。 酒精使用障碍种族/种族差异的神经生物学基材：通过成像，遗传学和生物行为信息来表征脆弱性/韧性。数据分析正在进行中。 通过时间表的饮酒模式来表征饮酒模式通过时间轴遵循后背回可变性分析：与渴望，其他药物使用，心理病理学和与酒精有关的肝脏疾病的关联。数据分析正在进行中。 在实验室和现场，多巴胺能遗传变异与静脉输液饮酒之间的关联。数据分析正在进行中。 PNPLA3，酒精中毒中的饮酒行为和代谢参数。数据分析正在进行中。 Connor-Davidson的弹性量表（CDRS）：与儿童创伤，与酒精有关的结果和心理病理学的关联。数据分析正在进行中。 奖励，疼痛和负面影响措施的表型差异在OPRM1表达的个体中。数据分析正在进行中。 FXYD2与DRD2基因之间的关联以及与酒精使用障碍中多巴胺信号传导有关的措施。数据分析正在进行中。 V.过去一年发起的新项目（13）： 对暴饮暴食定义和测量的评估：评估消费持续时间的重要性 EKG标记与酒精使用反应之间的表型和基因型关系 生命体征和昼夜节律与酒精使用反应的关系 酒精代谢基因和与酒精相关的表型的遗传变异 在接受住院酒精康复计划的患者中的体重趋势和微量营养储存的分析 杏仁核基因与AUD和其他成瘾性疾病的负面情绪的关联 甲状腺激素，冲动性和酒精依赖的严重程度 酒精使用障碍中的免疫球蛋白水平及其与合并症重大抑郁症和慢性压力的关联 使用验证性因素分析，烟碱α亚基对人格的影响 AUD的炎症，铁负荷和睡眠质量 AUD水通道基因的遗传差异和睡眠质量 酒精使用障碍复发的神经系统预测指标 在饮酒和酒精使用障碍范围内，个体中延迟奖励折扣表现与多巴胺能基因变异的关联 vi。其他进步 由于与精神遗传学联盟（PGC）建立了合作的结果，手稿的发布包括来自NIAAA存储库/筛查数据库的数据，以探讨使用药物使用和饮食失调表型的共同遗传风险。 由于与印第安纳大学建立了合作和澳大利亚百年学院的合作，发表了一份手稿，其中包括来自NIAAA存储库/筛查数据库的数据，查看了DSM-IV酒精依赖，标准和标准量的全基因组混合映射，以及乙醇对非裔美国人人口的影响的自我评价。 与酒精性肝炎网络项目（ALCHEPNET）建立了新的合作，以共享与对酒精性肝炎新疗法的研究有关的数据。