Co‐development of attention deficit hyperactivity disorder and autistic trait trajectories from childhood to early adulthood DOI Creative Commons
Amy Shakeshaft, Jon Heron, Rachel Blakey

et al.

Journal of Child Psychology and Psychiatry, Journal Year: 2023, Volume and Issue: 64(11), P. 1596 - 1607

Published: June 22, 2023

Background Attention deficit hyperactivity disorder (ADHD) and autism, defined as traits or disorders, commonly co‐occur. Developmental trajectories of ADHD autistic both show heterogeneity in onset course, but little is known about how symptom co‐develop into adulthood. Methods Using data from a population cohort, the Avon Longitudinal Study Parents Children, we examined correlations between across development, using Social Communication Disorders Checklist subscale Strengths Difficulties Questionnaire. We modelled joint developmental parent‐reported 4 25 years, then characterised trajectory classes based on sociodemographic, perinatal, psychopathology, cognition social functioning variables tested for associations with neurodevelopmental/psychiatric polygenic scores (PGS). Results Three were identified; typically developing majority low‐stable ADHD‐autistic (87%), male‐predominant subgroup child/adolescent‐declining (6%) late‐emerging (6%). trait greatest young adulthood two nontypically classes. There higher rates emotional conduct problems, low IQ, childhood seizures poor declining compared to class. Emotional, peer problems more prevalent during childhood/adolescent‐declining class other classes, Neurodevelopmental/psychiatric PGS also differed: showed elevated group, group additionally schizophrenia decreased executive function PGS, whereas broad depression PGS. Conclusions Distinct patterns ADHD‐autism co‐development are present development general population, each different characterising factors genetic signatures indexed by

Language: Английский

Relationship between hearing impairment and dementia and cognitive function: a Mendelian randomization study DOI Creative Commons
Deming Jiang, Jiahui Hou, Haitian Nan

et al.

Alzheimer s Research & Therapy, Journal Year: 2024, Volume and Issue: 16(1)

Published: Oct. 9, 2024

There is a substantial body of observational research indicating an association between hearing impairment and dementia, yet the causal relationship underlying mechanisms remain uncertain. This study aims to investigate its subtypes with dementia cognitive function using two-sample Mendelian randomization (MR) analysis.

Language: Английский

Citations

4
Novel Genes Associated With Working Memory Are Identified by Combining Connectome, Transcriptome, and Genome DOI Creative Commons

Xiaoyu Zhao,

Ruochen Yin,

Chuansheng Chen

et al.

Human Brain Mapping, Journal Year: 2025, Volume and Issue: 46(1)

Published: Jan. 1, 2025

ABSTRACT Working memory (WM) plays a crucial role in human cognition. Previous candidate and genome‐wide association studies have reported many genetic variations associated with WM. However, little research has examined basis of WM by using transcriptome, even though it reflects gene function more directly than does the genome. Here we propose new approach to exploring mechanisms integrating connectome, genome data high‐quality dataset comprising 481 Chinese healthy adults. First, relevance vector regression was used define WM‐related brain regions. Second, genes differentially expressed within these regions were identified Allen Human Brain Atlas (AHBA) dataset. Finally, two independent datasets validate genes' contributions With this method, 24 novel 20 them confirmed large‐scale ABCD UK Biobank. These enriched cellular component collagen‐containing extracellular matrix CCL18 signaling pathway. Our method offers an effective multimodal discovery demonstrates superiority expression data. This newly deserve attention future.

Language: Английский

Citations

0
NADG-GAM: Neighbor aggregation-based neurological disease-gene identification via optimal generative adjacency matrix DOI
Mengyuan Jin,

Ziyi Deng,

Yin Zhang

et al.

Applied Soft Computing, Journal Year: 2025, Volume and Issue: unknown, P. 112756 - 112756

Published: Jan. 1, 2025

Language: Английский

Citations

0
GenomicSEM Modelling of Diverse Executive Function GWAS Improves Gene Discovery DOI Creative Commons
L Perry, Nicolas Chevalier, Michelle Luciano

et al.

Behavior Genetics, Journal Year: 2025, Volume and Issue: 55(2), P. 71 - 85

Published: Feb. 1, 2025

Previous research has supported the use of latent variables as gold-standard in measuring executive function. However, for logistical reasons genome-wide association studies (GWAS) function have largely eschewed favour singular task measures. As low correlations traditionally been found between individual (EF) tests, it is unclear whether these GWAS truly same construct. In this study, we addressed question by performing a factor analysis on summary statistics from eleven EF taken five studies, using GenomicSEM. Models demonstrated bifactor structure consistent with previous research, factors capturing common and working memory- specific variance. Furthermore, performed model identified 20 new genomic risk loci 4 memory reaching significance beyond what was constituent GWAS, together resulting 29 newly mapped genes. These results help to clarify underlying genetic support idea that are capable variance related constructs even when not scores. they demonstrate GenomicSEM can combine divergent non-ideal measures phenotype improve statistical power.

Language: Английский

Citations

0
Cognitive predictors of mental health trajectories are mediated by inferior frontal and occipital development during adolescence DOI
Qingyang Li, Miao Cao, Dan J. Stein

et al.

Molecular Psychiatry, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 1, 2025

Language: Английский

Citations

0
Genomic Characterisation of the Relationship and Causal Links Between Vascular Calcification, Alzheimer’s Disease, and Cognitive Traits DOI Creative Commons
Emmanuel O Adewuyi, Simon M. Laws

Biomedicines, Journal Year: 2025, Volume and Issue: 13(3), P. 618 - 618

Published: March 3, 2025

Background/Objectives: Observational studies suggest a link between vascular calcification and dementia or cognitive decline, but the evidence is conflicting, underlying mechanisms are unclear. Here, we investigate shared genetic causal relationships of calcification—coronary artery (CAC) abdominal aortic (AAC)—with Alzheimer’s disease (AD), five traits. Methods: We analyse large-scale genome-wide association (GWAS) summary statistics, using well-regarded methods, including linkage disequilibrium score regression (LDSC), Mendelian randomisation (MR), pairwise GWAS (GWAS-PW), gene-based analysis. Results: Our findings reveal nominally significant positive correlation CAC AD, which becomes non-significant after excluding APOE region. AAC demonstrate negative correlations with performance educational attainment. MR found no AD traits, except for bidirectional borderline-significant fluid intelligence scores. Pairwise-GWAS analysis identifies SNPs (posterior probability [PPA]3 < 0.5). However, find pleiotropic loci (PPA4 > 0.9), particularly on chromosome 19, gene analyses revealing genes in regions, APOE, TOMM40, NECTIN2, APOC1. Moreover, identify suggestively 0.5) chromosomes 1, 6, 7, 9 implicating genes, NAV1, IPO9, PHACTR1, UFL1, FHL5, FOCAD. Conclusions: Current limited associations loci, at region, highlight complex interplay neurodegenerative processes. Given APOE’s roles lipid metabolism, neuroinflammation, integrity, its involvement may disorders, pointing to potential targets further investigation.

Language: Английский

Citations

0
Identifying biomarkers and trajectories of executive functions and language development in the first 3 years of life: Design, methods, and findings of the Germina cohort study DOI
Daniel Fatori, Elizabeth A. Shephard,

Danilo Benette

et al.

Development and Psychopathology, Journal Year: 2025, Volume and Issue: unknown, P. 1 - 11

Published: March 5, 2025

This paper reports the methods and preliminary findings of Germina, an ongoing cohort study to identify biomarkers trajectories executive functions language development in first 3 years life. 557 mother-infant dyads (mean age mothers 33.7 years, 65.2% white, 48.7% male infants) have undergone baseline are currently collecting data for other timepoints. A linear regression was used predict Bayley-III using scores derived from data-driven sparse partial least squares utilizing a multiple holdout framework 15 domains. Significant associations were found between socioeconomic/demographic characteristics (B = 0.29), epigenetics 0.11), EEG theta 0.14) beta activity microbiome functional pathways 0.08) domains, infant measured by at T1, suggesting potential interventions prevent impairments.

Language: Английский

Citations

0
Rapidly evolved genomic regions shape individual language abilities in present-day humans DOI Creative Commons
Lucas G. Casten, Tanner Koomar, Taylor R. Thomas

et al.

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

Published: March 11, 2025

1 Summary Minor genetic changes have produced profound differences in cognitive abilities between humans and our closest relatives, particularly language. Despite decades of research, ranging from single-gene studies to broader evolutionary analyses[1, 2, 3, 4, 5], key questions about the genomic foundations human language persisted, including which sequences are involved, how they evolved, whether similar occur other vocal learning species. Here we provide first evidence directly linking rapidly evolved regions contemporary humans. Through extensive analysis 65 million years events over 30,000 individuals, demonstrate that Human Ancestor Quickly Evolved Regions (HAQERs)[5] - accumulated mutations after human-chimpanzee split specifically influence but not general cognition. These shape development by altering binding Forkhead domain transcription factors, FOXP2 . Strikingly, language-associated HAQER variants show higher prevalence Neanderthals than modern humans, been stable throughout recent history, convergent evolution across mammalian learners. An unexpected pattern balancing selection acting on these apparently beneficial alleles is explained their pleiotropic effects prenatal brain contributing birth complications, reflecting an trade-off capability reproductive fitness. By developing Evolution Stratified-Polygenic Score analysis, capabilities likely emerged before human-Neanderthal far earlier previously thought[3, 6, 7]. Our findings establish direct link ancient divergence present-day variation abilities, while revealing constraints continue development.

Language: Английский

Citations

0
Genetic overlap between multi-site chronic pain and cognition: a large-scale genome-wide cross-trait analysis DOI Creative Commons
Yanjing Chen,

J. G. Deng,

Zhiyi Zhang

et al.

Frontiers in Neuroscience, Journal Year: 2025, Volume and Issue: 19

Published: March 14, 2025

Background Different studies have consistently demonstrated a positive correlation between chronic pain and cognitive changes. This study aimed to explore the genetic factors underlying relationship traits, investigate whether an inherent causal connection exists them. Method The contributions of multi-site eight traits were investigated based on Genome-wide association (GWAS) data. Linkage disequilibrium score regression (LDSC) was employed assess correlations each pair traits. shared components these by identifying single nucleotide polymorphisms (SNPs) with pleiotropic effects using Cross Phenotype Association (CPASSOC) method. Furthermore, enrichment analysis transcriptome-wide (TWAS) performed characterize significant associations latent variable model (LCV) potential both Results A negative found several functions, particularly intelligence (rg = −0. 11, p 7.77 × 10 −64 ). CPASSOC identified 150 loci. co-localization conducted, which 20 loci exhibiting at same genomic position. LCV indicated no Conclusion present work contributed enhanced understanding complex interplay function pain.

Language: Английский

Citations

0
Exploring the neural mechanisms linking healthy aging and cognitive maintenance: insights from Mendelian randomization and mediation analyses DOI

Tianyuyi Feng,

Weizhong Xiao,

Yunfei Li

et al.

Cerebral Cortex, Journal Year: 2025, Volume and Issue: 35(3)

Published: March 1, 2025

Abstract As global population ages, maintaining cognitive health in elderly is crucial. Previous studies suggest a positive link between healthy aging and cognition, but the neural mechanisms remain unclear. This study used genome-wide association studydata to investigate cognition. We employed 2-sample Mendelian randomization evaluate causal relationship (indexed by multivariate genetic predictor, mvAge) 6 measurements. then 2-step approach mediation analysis identify brain imaging-derived phenotypes potentially mediating this relationship. indicated that had with various functions (common executive function, intelligence, performance, fluid intelligence score). Two-step identified 27 having robust relationships Mediation suggested volume of subcallosal cortex might mediate effects on all 4 functions. Volume cerebellum’s VIIb could common functions, while fractional anisotropy anterior thalamic radiation performance. These findings specific regions may play potential role maintenance.

Language: Английский

Citations

0