NIAAA Repository/Screening Database Management and Research

截至本报告，NIAAA存储库/自然历史数据库包括3277个个体的表型和/或基因组数据。表型数据包括精神病诊断、各种酒精相关的评估和测量，包括终生和近期消费和酒精反应表型、个性和冲动测量、抑郁和焦虑症状、当前和早期生活压力和创伤、攻击、自杀、吸烟、智商、睡眠质量、疼痛和整体生活质量。实验室/生化测量也可用。基因组数据包括：1)使用Illumina阵列进行大规模单核苷酸多态性（SNP）基因分型；2)通过与强迫症临床核心实验室和神经遗传学实验室（NIAAA）的合作，对一部分受试者进行外显子组测序；3)通过与神经遗传学实验室的合作，对一部分受试者进行DNA甲基化数据。

As of this report, the NIAAA Repository/Natural History Database includes phenotype and/or genomic data on 3277 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, 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), and 3) DNA methylation data for a subset of subjects via a partnership with the Laboratory of Neurogenetics. All NIAAA PIs and their research staff are encouraged to submit data requests in order to conduct research projects and analyses using the shared NIAAA Repository/Natural History 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 (7) resulting in manuscripts published within the past year: Sleep and impulsivity in alcohol use disorder with comorbid mood disorder Inflammation, iron loading, and sleep quality in AUD Binge drinking behavior as a function of risk factors for alcohol use disorder Role of circadian and cannabinoid genes in Sleep and AUD Elevated stearoyl-coa desaturase 1 activity is associated with alcohol-associated liver disease An imaging genetics study of the prepro-ghrelin and glucagon-like peptide-1 receptor gene variants in alcohol use disorder An investigation into the role of metabolic biomarkers in the anticipation of reward in treatment seeking alcoholics II. Projects (3) resulting in manuscript submissions, revisions, or publications in press, within the past year: Association between FXYD2 and DRD2 genes and measures related to dopamine signaling in alcohol use disorder The role of C-Reactive protein in alcohol use disorder 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 Quality of life among patients with alcohol use disorder and healthy controls: Examining the effects of genetics, childhood adversities, drinking histories, and lifetime suicidality III. Projects (6) with manuscripts in preparation: Latent profile analysis of impulsive and compulsive drinking Reporting of adverse childhood events as a function of race/ethnicity and gender and their influence on drinking behaviors Electrocardiogram and other cardiovascular indicators of at-risk alcohol drinking An investigation into the role of metabolic biomarkers in the anticipation of reward in treatment seeking alcoholics (second manuscript from this project) Immunoglobulin levels in alcohol use disorder and their association with comorbid major depressive disorder and chronic stress Association between dopaminergic genetic variation and IV alcohol consumption in the lab and in the field. IV. Ongoing projects (14) still in progress: Connor-Davidson Resilience Scale (CDRS): association with childhood trauma, alcohol-related outcomes and psychopathology. Data analyses are ongoing. Individual differences of Taste Receptor Genes and their association with alcohol-and food-related phenotypes and behaviors. 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. Early life stress effects on emotional facial expression processing in individuals with alcohol use disorder. Data analyses are ongoing. Nicotinic alpha subunit effects on personality using confirmatory factor analysis. To be combined with the above project. 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. An evaluation of binge drinking definitions and measurement: assessing the importance of consumption duration. Data analyses are ongoing. Analysis of weight trends and micronutrient stores in patients admitted to an inpatient alcohol rehabilitation program. Data analyses are ongoing. Association of amygdalar genes to negative emotionality in AUD and other addictive disorders. Data analyses are ongoing. Neurological predictors of relapse in alcohol use disorder. Data analyses are ongoing. Differences in hypothalamic-pituitary-adrenal axis responses to alcohol withdrawal-induced stress in black and white individuals with and without alcohol use disorder. Data analyses are ingoing. Interactions between the UPPS-P impulsivity facets and alcohol related outcomes. Data analyses are ongoing. The impact of trauma timing and load on brain-behavioral measures of Alcohol Use Disorder. Data analyses are ongoing. V. New projects (2) initiated within the past year: Differences between those with only AUD and those with AUD and depression with an emphasis on the ANA framework Association of early life and current stressors with alcohol use and BMI VI. Other Progress As a result of an established collaboration with Indiana University (Tatiana Foroud and Arpana Argawal), a manuscript was published including data from the NIAAA Repository/Screening Database, looking at admixture mapping of DSM-IV alcohol dependence, criterion count, and the self-rating of the effects of ethanol in African American populations. The collaboration with The Alcoholic Hepatitis Network project (AlcHepNet) is ongoing and data were shared with the group to be used in investigations of genetic variation and new treatments in alcoholic hepatitis.