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On this page, we show you all research publications of the FAMILY consortium.

For each publication, we provide a brief summary.

To read the full article, simply click on the title of the publication.


By: Oblong, Soheili-Nezhad et al.

Principal and independent genomic components of brain structure and function

Publication Date: January 2024

Oblong LM, Soheili-Nezhad S, Trevisan N, Shi Y, Beckmann CF, Sprooten E

In recent years, researchers have widely used Genome-wide association studies (GWAS) to explore how millions of small genetic variations across our DNA influence the individual structure and function of the brain. However, these genome-wide associations are challenging to interpret because they result from combinations of many complex biological processes, influenced by both genetic variants and the environment. To address this, our study introduces a novel method called “genomic independent component analysis” (genomic ICA). This approach transforms genome-wide brain associations into simpler, more reproducible structures termed “genomic components”. First, we optimized the genomic ICA algorithm to ensure the quality of these components. Next, we assessed whether these components could be reproduced in independent samples and compared their performance with traditional GWAS outputs. Finally, each component was analysed, to check whether there are links with certain aspects of structure and function of the brain. Our analysis revealed improved reproducibility of genomic components compared to traditional GWAS results. Moreover, we identified specific combinations of genetic variants that collectively influence distinct aspects of brain structure and function, such as cortical thickness and white matter structure. Overall, our study shows that we have successfully developed a new, data-driven method that can transform large gene-brain association data into simpler structures, which reflect the joint influence of genetic variants on distinct brain features.In future analyses, this can help to better understand how genetic variants interact with each other and with the environment, and to gain insights into the biological processes underlying brain related conditions. Next, we plan to use a method called polygenic scoring, to learn more about individual differences in the genetic influences on the brain, and how this relates to mental health. This will help us understand how risk and resilience for mental health problems are passed down in families.

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By: Francesca DiGiacomo et al.

Risk factors for mood disorders among offspring of parents with bipolar disorder: Findings from a discordant-sibling study

Publication Date: November 2023

Giacomo FD, Strippoli MF, Castelao E, Amoussou JR, Gholam M, Ranjbar S, Glaus J, Marquet P, Preisig M, Plessen KJ, Vandeleur CL

The aim of the study conducted by Di Giacomo et al. was to investigate the factors that might contribute to an increased risk of developing mood disorders in offspring of parents diagnosed with bipolar disorder. To identify risk factors, a discordant-sibling design was used – emphasis was placed on comparing differences in early mental disorders, temperament, personality traits, and coping mechanisms between siblings within the same family. Offspring who developed bipolar disorder or major depressive disorder were compared with at least one brother or sister, who did not manifest either condition. This so called “sib-pair approach” is a methodology that takes variations among siblings and similar factors such as shared genetics and environmental influences into account. Importantly, the information collected originated directly from the offspring, rather than relying solely on data provided by the parent with bipolar disorder. The statistical models applied revealed differences in three dimensions of the Dimension of Temperament Survey-Revised (DOTS-R) version: those who later experienced mood disorders scored higher in “Rhythmicity for daily habits” (displaying more regularity in daily routines), “Task orientation” (demonstrating persistence and reduced distractibility in tasks), and “Approach to novelty” (exhibiting a greater inclination to explore new things) compared to their siblings without mood disorders. Surprisingly, the observed scores were higher, contrary to the expected lower scores. These higher scores could indicate increased vulnerability to mood disorders, but they may also be associated with mood swings before the actual disorder starts or strategies used to cope with them. In the future, data from similar studies need to be combined worldwide, given that sibling-pair studies generally suffer from low sample size.

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