Kopal Jakub, Huguet Guillaume, Marotta Justin, Aggarwal Shambhavi, Osayande Nicole, Kumar Kuldeep, Saci Zohra, Jean-Louis Martineau, Chai Xiaoqian J, Ge Tian, Yeo B T Thomas, Thompson Paul M, Bearden Carrie E, Andreassen Ole A, Jacquemont Sébastien, Bzdok Danilo
Department of Biomedical Engineering, Faculty of Medicine, McGill University, Montreal, Quebec, Canada.
Mila - Quebec Artificial Intelligence Institute, Montreal, Quebec, Canada.
Nat Biomed Eng. 2025 Jul 18. doi: 10.1038/s41551-025-01454-0.
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, brain architecture, environment, human health and daily living skills. Here we interrogate the Adolescent Brain Cognitive Development (ABCD) cohort to outline the effects of rare high-effect genetic variants on brain architecture and their corresponding implications on cognitive, behavioural, psychosocial and socioeconomic traits. We design a holistic pattern-learning framework that quantitatively dissects the impacts of copy number variations (CNVs) on brain structure and 938 behavioural variables spanning 20 categories in 7,338 adolescents. Our results reveal associations between genetic alterations, higher-order brain networks and specific parameters of the family wellbeing, including increased parental and child stress, anxiety and depression, or neighbourhood dynamics such as decreased safety. We thus find effects extending beyond the impairment of cognitive ability or language capacity which have been previously reported. Our investigation spotlights the interplay between genetic variation and subjective life quality in adolescents and their families.
我们的基因构成，连同环境和社会影响，塑造着我们大脑的发育。然而，影像遗传学领域一直在努力整合所有这些模式，以研究基因蓝图、脑结构、环境、人类健康和日常生活技能之间的相互作用。在此，我们对青少年大脑认知发展（ABCD）队列进行研究，以概述罕见的高效基因变异对脑结构的影响及其对认知、行为、心理社会和社会经济特征的相应影响。我们设计了一个整体模式学习框架，定量剖析了7338名青少年中拷贝数变异（CNV）对脑结构和20个类别中938个行为变量的影响。我们的研究结果揭示了基因改变、高阶脑网络与家庭幸福的特定参数之间的关联，包括父母和孩子压力、焦虑和抑郁的增加，或社区动态变化，如安全感下降。因此，我们发现其影响超出了先前报道的认知能力或语言能力受损的范围。我们的研究突出了青少年及其家庭中基因变异与主观生活质量之间的相互作用。
