Barbara Barth

Abstract Predisposition to adult chronic physical and mental health disorders is shaped by genetics, environmental exposures, and their interactions. However, it remains unclear whether the same genetic variants associated with disease risk also influence how individuals respond to environmental exposures, such as early life adversity. This study examined whether genetic variants associated with disease risk overlap with those that modulate the effects of early life adversity.

Prenatal adversity, such as intrauterine growth restriction (IUGR), heightens the risk for psychiatric and metabolic diseases in adulthood, often manifesting early on as altered reward-related behavior during development. Specifically, IUGR is associated with an increased preference for palatable foods and altered brain insulin sensitivity, and dopamine (DA) is the main neurotransmitter modulating this behavior.

Abstract Incorporating functional aspects into polygenic scores may accelerate early diagnosis and the discovery of therapeutic targets. Yet, existing polygenic scores summarize information from genome wide statistical associations between SNPs and phenotypes. We developed the novel biologically informed, expression-based polygenic scores (ePRS or ePGS).