Browsing by Subject "Family studies"

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    Development of Alcohol Use Disorder as a Function of Age, Severity, and Comorbidity with Externalizing and Internalizing Disorders in a Young Adult Cohort
    (Hapres Limited, 2019) Nurnberger Jr., John I.; Yang, Ziyi; Zang, Yong; Acion, Laura; Bierut, Laura; Bucholz, Kathleen; Chan, Grace; Dick, Danielle M.; Edenberg, Howard J.; Kramer, John; Kuperman, Samuel; Rice, John P.; Schuckit, Marc; Psychiatry, School of Medicine
    Background: As part of the ongoing Collaborative Study of the Genetics of Alcoholism, we performed a longitudinal study of a high risk cohort of adolescents/young adults from families with a proband with an alcohol use disorder, along with a comparison group of age-matched controls. The intent was to compare the development of alcohol problems in subjects at risk with and without comorbid externalizing and internalizing psychiatric disorders. Methods: Subjects (N = 3286) were assessed with a structured psychiatric interview at 2 year intervals over 10 years (2004–2017). The age range at baseline was 12–21. Results: Subjects with externalizing disorders (with or without accompanying internalizing disorders) were at increased risk for the onset of an alcohol use disorder during the observation period. Subjects with internalizing disorders were at greater risk than those without comorbid disorders for onset of a moderate or severe alcohol use disorder. The statistical effect of comorbid disorders was greater in subjects with more severe alcohol use disorders. The developmental trajectory of drinking milestones and alcohol use disorders was also accelerated in those with more severe disorders. Conclusions: These results may be useful for counseling of subjects at risk who present for clinical care, especially those subjects manifesting externalizing and internalizing disorders in the context of a positive family history of an alcohol use disorder. We confirm and extend findings that drinking problems in subjects at greatest risk will begin in early adolescence.
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    Whole Genome Sequencing of Pedigrees With High Density of Substance Use and Psychiatric Disorders: A Meeting Report
    (Wiley, 2025) Hill, Shirley Y.; Edenberg, Howard J.; Corvin, Aiden; Thorgeirsson, Thorgeir; Below, Jennifer E.; Goldman, David; Leal, Suzanne; Almasy, Laura; Cox, Nancy J.; Daly, Mark; Neale, Benjamin; Vrieze, Scott; Zoghbi, Huda; Biochemistry and Molecular Biology, School of Medicine
    The National Institute of Drug Abuse convened a panel of scientists with expertise in substance use disorders (SUD) and genetic methodologies primarily to determine the feasibility of performing whole genome sequencing utilizing existing pedigree collections with a high density of SUD and psychiatric disorders. A major focus was on determining if there had been any successes in identifying genetic variants for complex traits in family-based designs. Such information could provide assurance that whole genome sequencing might provide significant pay-offs particularly in the pursuit of rare variants and copy number variants. An important goal was to discuss and evaluate optimal strategies for studying genetic variants in human samples. Specific topics were (a) to consider whether a smaller number of cases typically available in family studies versus the larger number available in biobanks can reveal unique information; (b) to identify potential gaps in information available in biobank data that might be supplemented with family data; (c) to consider the optimal SUD phenotypic definitions (e.g., quantity of use, problem-oriented) and data collection instruments (self-report or clinician administered) that are both practical and efficient to collect, and likely to provide important insights concerning prevention, intervention, and medication development. Conclusions reached by the panel included optimism about the successes that have occurred in the existing family studies ascertained to include densely affected pedigrees. Evaluation of methodologies led, overall, to a panel consensus that steps should be taken to utilize biobank collection in conjunction with family-based investigations for optimal variant discovery.