The BioSUD Biobank: A genomic resource for Substance Use Disorders in Italy

Abstract Substance Use Disorders (SUDs) are a significant public health concern with complex etiologies involving genetic, environmental, and psychological factors. Here we present BioSUD, a biobank that, by integrating genomic data with comprehensive phenotypic assessments, including sociodemographic, psychosocial, and addiction-related variables, was developed to investigate the etiology of SUDs within the Southern Italian population. We assessed a cohort of 1,806 participants (1,508 controls and 298 individuals with SUD diagnosis), revealing a marked male predominance in both groups. Genomic analyses of the newly generated genotypes showed a predominantly Southern Italian ancestry for the BioSUD cohort. Moreover, multiple genotype analysis highlights the presence of different ancestries, suggesting a complex history of Southern Italian groups, contributing to a relatively high level of genetic variation that may be not captured by translational studies based on groups with predominantly Northern European ancestries. From a social and psychological perspective, individuals with SUDs exhibited lower socioeconomic status, increased exposure to adverse experiences, and compromised familial and peer relationships relative to controls. These results show that the BioSUD cohort is valuable for studying SUDs-associated complex behavioral traits.