A Multivariate Genome-Wide Association Study Reveals Neural Correlates and Common Biological Mechanisms of Psychopathology Spectra DOI Creative Commons
Christal N. Davis, Yousef Khan, Sylvanus Toikumo

et al.

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: April 9, 2024

There is considerable comorbidity between externalizing (EXT) and internalizing (INT) psychopathology. Understanding the shared genetic underpinnings of these spectra crucial for advancing knowledge their biological bases potential health impacts, informing empirical models like Research Domain Criteria (RDoC) Hierarchical Taxonomy Psychopathology (HiTOP). We conducted a multivariate genome-wide association study (GWAS) EXT INT psychopathology by applying genomic structural equation modeling to summary statistics from 16 traits in European-ancestry individuals (n = 16,400 1,074,629). Downstream analyses explored associations across RDoC units analysis (i.e., genes, molecules, cells, circuits, physiology, behaviors). The GWAS identified 409 lead single nucleotide polymorphisms (SNPs) EXT, 85 INT, 256 EXT+INT shared) traits. Bivariate causal mixture estimated that nearly all variants overlapped, despite correlation 0.37 (SE 0.02). Drug repurposing therapeutic targets, including perturbagens affecting dopamine serotonin pathways. genes had enriched expression GABAergic, cortical, hippocampal neurons, while were more narrowly linked GABAergic neurons. liability was associated with reduced grey matter volumes amygdala subcallosal cortex. These findings reveal both overlap distinct molecular neurobiological pathways underlying By integrating insights HiTOP frameworks, this advances our understanding mechanisms driving dimensions

Language: Английский

Decoding the Nectin Interactome: Implications for Brain Development, Plasticity, and Neurological Disorders DOI
Shreyash Santosh Yadav,

Krishnamoorthy Srinivasan,

Shyam Sunder Sharma

et al.

ACS Chemical Neuroscience, Journal Year: 2025, Volume and Issue: unknown

Published: March 2, 2025

The nectin family of cell adhesion molecules (CAMs) comprising nectins and nectin-like has emerged as a key regulator various pivotal neural processes, including neuronal development, migration, synapse formation, plasticity. Nectins engage in homophilic heterophilic interactions to mediate cell-cell adhesion, contributing the establishment maintenance circuits. Their extracellular domains facilitate trans-synaptic interactions, while intracellular participate signaling cascades influencing cytoskeletal dynamics synaptic function. exhibition distinct localization patterns neurons, astrocytes, blood-brain barrier underscores their diverse roles brain. dysregulation been implicated several neurological disorders, such neurodevelopmental depression, schizophrenia, Alzheimer's disease. This review examines structural functional characteristics distribution molecular mechanisms governing connectivity cognition. It further discusses experimental studies unraveling nectin-mediated pathophysiology potential therapeutic interventions targeting nectin-related pathways. Collectively, this comprehensive analysis highlights significance brain function, paving way for future research directions clinical implications.

Language: Английский

Citations

0

Gene discovery and pleiotropic architecture of Chronic Pain in a Genome-wide Association Study of >1.2 million Individuals DOI Creative Commons
Sylvanus Toikumo, Christal N. Davis, Zeal Jinwala

et al.

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2025, Volume and Issue: unknown

Published: March 5, 2025

ABSTRACT Chronic pain is highly prevalent worldwide, and genome-wide association studies (GWAS) have identified a growing number of chronic loci. To further elucidate its genetic architecture, we leveraged data from 1,235,695 European ancestry individuals across three biobanks. In meta-analytic GWAS, 343 independent loci for pain, 92 which were new. Sex-specific meta-analyses revealed 115 (12 new) males (N = 583,066) 12 (two females 241,266). Multi-omics gene prioritization analyses highlighted 490 genes associated with through their effects on brain- blood-specific regulation. Loci increased risk also multiple other traits, Mendelian randomization showing that was causally psychiatric disorders, substance use C-reactive protein levels. variants exhibited pleiotropic associations cortical area brain structures. This study expands our knowledge the genetics pathogenesis, highlighting importance pleiotropy disorders elucidating multi-omic pathophysiology.

Language: Английский

Citations

0

Multivariate, Multi-omic Analysis in 799,429 Individuals Identifies 134 Loci Associated with Somatoform Traits DOI Creative Commons
Christal N. Davis, Sylvanus Toikumo, Alexander S. Hatoum

et al.

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: July 29, 2024

Abstract Somatoform traits, which manifest as persistent physical symptoms without a clear medical cause, are prevalent and pose challenges to clinical practice. Understanding the genetic basis of these disorders could improve diagnostic therapeutic approaches. With publicly available summary statistics, we conducted multivariate genome-wide association study (GWAS) multi-omic analysis four somatoform traits—fatigue, irritable bowel syndrome, pain intensity, health satisfaction—in 799,429 individuals genetically similar Europeans. Using genomic structural equation modeling, GWAS identified 134 loci significantly associated with common factor, including 44 not significant in input 8 novel for traits. Gene-property analyses highlighted an enrichment genes involved synaptic transmission enriched gene expression 12 brain tissues. Six genes, members CD300 family, had putatively causal effects mediated by protein abundance. There was substantial polygenic overlap (76-83%) between externalizing, internalizing, general psychopathology factors. scores were most strongly obesity, Type 2 diabetes, tobacco use disorder, mood/anxiety independent biobanks. Drug repurposing suggested potential targets, MEK inhibitors. Mendelian randomization indicated potentially protective gut microbiota, Ruminococcus bromii . These biological insights provide promising avenues treatment development.

Language: Английский

Citations

1

Exploring the genetic and socioeconomic interplay between ADHD and anxiety disorders using Mendelian randomization DOI Creative Commons
Xiaojuan Deng, Hongyan Ren, Shuang Wu

et al.

Frontiers in Psychiatry, Journal Year: 2024, Volume and Issue: 15

Published: Aug. 6, 2024

ADHD and anxiety disorders often co-occur, sharing symptoms dysfunctions, yet the underlying mechanisms remain elusive.

Language: Английский

Citations

1

A Multivariate Genome-Wide Association Study Reveals Neural Correlates and Common Biological Mechanisms of Psychopathology Spectra DOI Creative Commons
Christal N. Davis, Yousef Khan, Sylvanus Toikumo

et al.

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: April 9, 2024

There is considerable comorbidity between externalizing (EXT) and internalizing (INT) psychopathology. Understanding the shared genetic underpinnings of these spectra crucial for advancing knowledge their biological bases potential health impacts, informing empirical models like Research Domain Criteria (RDoC) Hierarchical Taxonomy Psychopathology (HiTOP). We conducted a multivariate genome-wide association study (GWAS) EXT INT psychopathology by applying genomic structural equation modeling to summary statistics from 16 traits in European-ancestry individuals (n = 16,400 1,074,629). Downstream analyses explored associations across RDoC units analysis (i.e., genes, molecules, cells, circuits, physiology, behaviors). The GWAS identified 409 lead single nucleotide polymorphisms (SNPs) EXT, 85 INT, 256 EXT+INT shared) traits. Bivariate causal mixture estimated that nearly all variants overlapped, despite correlation 0.37 (SE 0.02). Drug repurposing therapeutic targets, including perturbagens affecting dopamine serotonin pathways. genes had enriched expression GABAergic, cortical, hippocampal neurons, while were more narrowly linked GABAergic neurons. liability was associated with reduced grey matter volumes amygdala subcallosal cortex. These findings reveal both overlap distinct molecular neurobiological pathways underlying By integrating insights HiTOP frameworks, this advances our understanding mechanisms driving dimensions

Language: Английский

Citations

0