Skip to main content

This is a preprint.

It has not yet been peer reviewed by a journal.

The National Library of Medicine is running a pilot to include preprints that result from research funded by NIH in PMC and PubMed.

medRxiv logoLink to medRxiv
[Preprint]. 2024 May 22:2024.05.21.24307729. [Version 1] doi: 10.1101/2024.05.21.24307729

High-effect gene-coding variants impact cognition, mental well-being, and neighborhood safety substrates in brain morphology

Jakub Kopal, Guillaume Huguet, Justin Marotta, Shambhavi Aggarwal, Nicole Osayande, Kuldeep Kumar, Zohra Saci, Martineau Jean-Louis, Xiaoqian J Chai, Tian Ge, BT Thomas Yeo, Paul M Thompson, Carrie E Bearden, Ole A Andreassen, Sebastien Jacquemont, Danilo Bzdok
PMCID: PMC11142289  PMID: 38826357

Abstract

Our genetic makeup, together with environmental and social influences, shape our brain's development. Yet, the imaging genetics field has struggled to integrate all these modalities to investigate the interplay between genetic blueprint, environment, human health, daily living skills and outcomes. Hence, we interrogated the Adolescent Brain Cognitive Development (ABCD) cohort to outline the effects of rare high-effect genetic variants on brain architecture and corresponding implications on cognitive, behavioral, psychosocial, and socioeconomic traits. Specifically, we designed a holistic pattern-learning algorithm that quantitatively dissects the impacts of copy number variations (CNVs) on brain structure and 962 behavioral variables spanning 20 categories in 7,657 adolescents. Our results reveal associations between genetic alterations, higher-order brain networks, and specific parameters of the family well-being (increased parental and child stress, anxiety and depression) or neighborhood dynamics (decreased safety); effects extending beyond the impairment of cognitive ability or language capacity, dominantly reported in the CNV literature. Our investigation thus spotlights a far-reaching interplay between genetic variation and subjective life quality in adolescents and their families.

Full Text Availability

The license terms selected by the author(s) for this preprint version do not permit archiving in PMC. The full text is available from the preprint server.


Articles from medRxiv are provided here courtesy of Cold Spring Harbor Laboratory Preprints

RESOURCES