4.7 Article

Associated Genetics and Connectomic Circuitry in Schizophrenia and Bipolar Disorder

Related references

Note: Only part of the references are listed.
Article Neurosciences

Structural and functional connectivity reconstruction with CATO- A Connectivity Analysis TOolbox

Siemon C. de Lange et al.

Summary: We present a toolbox called CATO for reconstructing brain connectivity using diffusion weighted imaging and resting-state functional MRI data. This multimodal software package allows for end-to-end reconstructions, customized analyses, and utilization of various software packages for data preprocessing. Structural and functional connectome maps can be reconstructed based on user-defined atlases, providing aligned connectivity matrices for multimodal analyses. The performance of CATO was evaluated using simulated diffusion weighted imaging data and real data from the Human Connectome Project. CATO is open-source software available as a MATLAB toolbox and stand-alone application.

NEUROIMAGE (2023)

Article Neurosciences

Schizophrenia Polygenic Risk During Typical Development Reflects Multiscale Cortical Organization

Matthias Kirschner et al.

Summary: In typically developing children and adolescents, higher PRS-SCZ is associated with greater cortical thickness, mainly in association cortical areas, and the pattern of cortical thickness changes related to PRS-SCZ is similar to the cortical thinning pattern in schizophrenia and mood-related psychiatric disorders. Age group models illustrate the trajectory of cortical thickness changes from early childhood to late adolescence.

BIOLOGICAL PSYCHIATRY: GLOBAL OPEN SCIENCE (2023)

Article Neurosciences

Boosting Schizophrenia Genetics by Utilizing Genetic Overlap With Brain Morphology

Dennis Van der Meer et al.

Summary: The study reveals a strong genetic overlap between schizophrenia and brain morphology, with mixed directions of effect. By leveraging this overlap, it may enhance our understanding of the underlying mechanisms of schizophrenia and improve polygenic risk prediction outcome.

BIOLOGICAL PSYCHIATRY (2022)

Article Biochemistry & Molecular Biology

Polygenic scores: prediction versus explanation

Robert Plomin et al.

Summary: Polygenic scores have rapidly grown in importance within the behavioral sciences over the past decade, allowing for the prediction of common disorders and traits in the population without needing to understand the processes between genes and behavior. While ultimate explanations from genes to behavior remain a long-term goal, the immediate practical utility of prediction for identifying at-risk individuals is a crucial first step. Increasing the predictive power of polygenic scores is a key focus for research in order to use them as an early warning system for prevention.

MOLECULAR PSYCHIATRY (2022)

Review Biochemistry & Molecular Biology

Integrative omics of schizophrenia: from genetic determinants to clinical classification and risk prediction

Fanglin Guan et al.

Summary: Schizophrenia is a debilitating neuropsychiatric disorder with high heritability and complex inheritance. Various Omics technologies have been applied to study the pathogenesis of schizophrenia. Integration of multi-Omics data has emerged as a crucial approach to provide a more comprehensive view of biological complexity and improve clinical assessments and interventions.

MOLECULAR PSYCHIATRY (2022)

Article Multidisciplinary Sciences

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Vassily Trubetskoy et al.

Summary: In this study, a two-stage genome-wide association study was conducted to identify common variants associated with schizophrenia. The results revealed 287 distinct genomic loci and 120 genes likely to be involved in the development of schizophrenia. This research provides valuable insights into the pathophysiology of schizophrenia and offers a resource for further mechanistic studies.

NATURE (2022)

Article Biochemistry & Molecular Biology

Large-scale GWAS reveals genetic architecture of brain white matter microstructure and genetic overlap with cognitive and mental health traits (n=17,706)

Bingxin Zhao et al.

Summary: The study analyzed the genetic architecture of 110 tract-based DTI parameters and conducted GWAS to identify novel genetic variants associated with white matter tracts. Results suggested a highly polygenic architecture of genetic influence across the genome, with enrichment of genetic effects for active SNPs annotated by central nervous system cells. GWAS identified 213 significant SNPs associated with 90 DTI parameters, and gene-based association study prioritized 112 significant genes, many of which are novel and have implications for cognitive and mental health traits.

MOLECULAR PSYCHIATRY (2021)

Article Biochemistry & Molecular Biology

Functional connectome-wide associations of schizophrenia polygenic risk

Hengyi Cao et al.

Summary: This study identified a significant negative correlation between schizophrenia polygenic risk scores and functional connectivity in specific brain networks, across multiple fMRI paradigms. Additionally, patients with schizophrenia exhibited reduced connectivity in the identified network, which was also correlated with cognitive ability. These findings highlight the potential role of disrupted integration of sensori-cognitive information as a genetic effect contributing to the pathogenesis of schizophrenia.

MOLECULAR PSYCHIATRY (2021)

Article Biochemistry & Molecular Biology

Cis-effects on gene expression in the human prenatal brain associated with genetic risk for neuropsychiatric disorders

Lynsey S. Hall et al.

Summary: This study identified prenatal cis-regulatory effects on gene expression in the human fetal brain associated with genetic risk for neuropsychiatric disorders, highlighting the role of altered gene regulation in susceptibility to these conditions. Pleiotropic effects of expression predictors were observed for various genes and transcripts, indicating potential risk genes for further neurobiological investigation.

MOLECULAR PSYCHIATRY (2021)

Article Neurosciences

Confound modelling in UK Biobank brain imaging

Fidel Alfaro-Almagro et al.

Summary: Dealing with confounds is essential in large cohort studies to address unexplained variance and spurious correlations. The UK Biobank is a powerful resource for studying associations between imaging and non-imaging measures, but the high statistical power also increases sensitivity to confound effects. Researchers must carefully consider these factors.

NEUROIMAGE (2021)

Review Psychiatry

Neuroimaging Biomarkers in Schizophrenia

Nina Kraguljac et al.

Summary: Schizophrenia is a complex neuropsychiatric syndrome with no objective biological markers available for diagnostic or treatment decisions. Neuroimaging is considered a promising tool for biomarker development in schizophrenia, as it can capture phenotypic variations in disease targets, validate new treatment targets, predict response, aid in therapy selection, and provide rationale for personalized treatments.

AMERICAN JOURNAL OF PSYCHIATRY (2021)

Article Psychiatry

The association of polygenic risk for schizophrenia, bipolar disorder, and depression with neural connectivity in adolescents and young adults: examining developmental and sex differences

J. L. Meyers et al.

Summary: The study found that polygenic risk for schizophrenia is significantly associated with increased functional neural connectivity in young adults without a schizophrenia diagnosis, with differences observed based on sex and age. Similar associations were also seen in genetically related neuropsychiatric polygenic risk scores, suggesting a link between genetic risk and neural connectivity patterns in unaffected individuals.

TRANSLATIONAL PSYCHIATRY (2021)

Article Genetics & Heredity

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Niamh Mullins et al.

Summary: A genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry revealed 64 associated genomic loci, enriched in genes related to synaptic signaling pathways and brain-expressed genes. The study also identified potential therapeutic leads and drug targets, highlighting the complex genetic correlations between bipolar disorder subtypes and providing insights into the disorder's etiology.

NATURE GENETICS (2021)

Article Biochemistry & Molecular Biology

Grey and white matter microstructure is associated with polygenic risk for schizophrenia

Eva-Maria Stauffer et al.

Summary: The study found associations between polygenic risk scores and neuroimaging phenotypes, suggesting genetic effects on brain structure at global and regional scales. Results indicate a link between genetic risk for schizophrenia and altered neurite density index in the brain.

MOLECULAR PSYCHIATRY (2021)

Article Multidisciplinary Sciences

Genetic influences on hub connectivity of the human connectome

Aurina Arnatkeviciute et al.

Summary: The study shows that genes play a significant and preferential role in influencing the strength of connections between brain network hubs, which are characterized by high metabolic costs.

NATURE COMMUNICATIONS (2021)

Article Genetics & Heredity

Functional variants fine-mapping and gene function characterization provide insights into the role of ZNF323 in schizophrenia pathogenesis

Shiwu Li et al.

Summary: A genetic variant in the ZNF323 promoter contributes to schizophrenia risk by regulating ZNF323 expression, suggesting that ZNF323 may be a major regulator of schizophrenia risk genes.

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2021)

Article Biochemistry & Molecular Biology

Genome-wide analysis reveals extensive genetic overlap between schizophrenia, bipolar disorder, and intelligence

Olav B. Smelan et al.

MOLECULAR PSYCHIATRY (2020)

Review Biochemical Research Methods

Tutorial: a guide to performing polygenic risk score analyses

Shing Wan Choi et al.

NATURE PROTOCOLS (2020)

Article Clinical Neurology

Neurobiology of the major psychoses: a translational perspective on brain structure and function-the FOR2107 consortium

Tilo Kircher et al.

EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE (2019)

Review Neurosciences

Multiscale Neuroscience of Psychiatric Disorders

Martijn P. van den Heuvel et al.

BIOLOGICAL PSYCHIATRY (2019)

Article Neurosciences

Impact of Polygenic Risk for Schizophrenia on Cortical Structure in UK Biobank

Emma Neilson et al.

BIOLOGICAL PSYCHIATRY (2019)

Article Genetics & Heredity

Genome-wide association study identifies 30 loci associated with bipolar disorder

Eli A. Stahl et al.

NATURE GENETICS (2019)

Review Neurosciences

A cross-disorder connectome landscape of brain dysconnectivity

Martijn P. van den Heuvel et al.

NATURE REVIEWS NEUROSCIENCE (2019)

Article Biology

PRSice-2: Polygenic Risk Score software for biobank-scale data

Shing Wan Choi et al.

GIGASCIENCE (2019)

Article Biochemistry & Molecular Biology

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Douglas M. Ruderfer et al.

Article Multidisciplinary Sciences

The UK Biobank resource with deep phenotyping and genomic data

Clare Bycroft et al.

NATURE (2018)

Article Multidisciplinary Sciences

Functional mapping and annotation of genetic associations with FUMA

Kyoko Watanabe et al.

NATURE COMMUNICATIONS (2017)

Article Biochemical Research Methods

FlashPCA2: principal component analysis of Biobank-scale genotype datasets

Gad Abraham et al.

BIOINFORMATICS (2017)

Article Neurosciences

Multimodal population brain imaging in the UK Biobank prospective epidemiological study

Karla L. Miller et al.

NATURE NEUROSCIENCE (2016)

Article Multidisciplinary Sciences

Adolescence is associated with genomically patterned consolidation of the hubs of the human brain connectome

Kirstie J. Whitaker et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)

Article Psychology, Clinical

Etiologic, Phenomenologic, and Endophenotypic Overlap of Schizophrenia and Bipolar Disorder

Godfrey D. Pearlson

ANNUAL REVIEW OF CLINICAL PSYCHOLOGY, VOL 11 (2015)

Article Genetics & Heredity

An atlas of genetic correlations across human diseases and traits

Brendan Bulik-Sullivan et al.

NATURE GENETICS (2015)

Article Genetics & Heredity

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

Brendan K. Bulik-Sullivan et al.

NATURE GENETICS (2015)

Review Neurosciences

A review of structural neuroimaging in schizophrenia: from connectivity to connectomics

Anne L. Wheeler et al.

FRONTIERS IN HUMAN NEUROSCIENCE (2014)

Article Biochemistry & Molecular Biology

Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia

D. M. Ruderfer et al.

MOLECULAR PSYCHIATRY (2014)

Article Multidisciplinary Sciences

Biological insights from 108 schizophrenia-associated genetic loci

Stephan Ripke et al.

NATURE (2014)

Article Psychiatry

Prefrontal Cortical Dendritic Spine Pathology in Schizophrenia and Bipolar Disorder

Glenn T. Konopaske et al.

JAMA PSYCHIATRY (2014)

Article Medicine, General & Internal

Informing DSM-5: biological boundaries between bipolar I disorder, schizoaffective disorder, and schizophrenia

Victoria E. Cosgrove et al.

BMC MEDICINE (2013)

Article Genetics & Heredity

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

S. Hong Lee et al.

NATURE GENETICS (2013)

Article Neurosciences

Estimating false positives and negatives in brain networks

Marcel A. de Reus et al.

NEUROIMAGE (2013)

Review Neurosciences

FreeSurfer

Bruce Fischl

NEUROIMAGE (2012)

Article Psychiatry

Prevalence and Correlates of Bipolar Spectrum Disorder in the World Mental Health Survey Initiative

Kathleen R. Merikangas et al.

ARCHIVES OF GENERAL PSYCHIATRY (2011)

Article Biochemistry & Molecular Biology

Genomic inflation factors under polygenic inheritance

Jian Yang et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2011)

Article Neurosciences

The organization of the human cerebral cortex estimated by intrinsic functional connectivity

B. T. Thomas Yeo et al.

JOURNAL OF NEUROPHYSIOLOGY (2011)

Review Neurosciences

Tractography: Where Do We Go from Here?

Saad Jbabdi et al.

BRAIN CONNECTIVITY (2011)

Article Neurosciences

Network-based statistic: Identifying differences in brain networks

Andrew Zalesky et al.

NEUROIMAGE (2010)

Article Clinical Neurology

Default mode network abnormalities in bipolar disorder and schizophrenia

Dost Oenguer et al.

PSYCHIATRY RESEARCH-NEUROIMAGING (2010)

Article Psychology, Clinical

Bipolar Disorder, Schizoaffective Disorder, and Schizophrenia Overlap: A New Comorbidity Index

Thomas Munk Laursen et al.

JOURNAL OF CLINICAL PSYCHIATRY (2009)

Article Behavioral Sciences

Studying connections in the living human brain with diffusion MRI

Derek K. Jones

CORTEX (2008)

Article Public, Environmental & Occupational Health

Schizophrenia: A Concise Overview of Incidence, Prevalence, and Mortality

John McGrath et al.

EPIDEMIOLOGIC REVIEWS (2008)

Article Genetics & Heredity

PLINK: A tool set for whole-genome association and population-based linkage analyses

Shaun Purcell et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)