Gilles-de-la-Tourette Syndrome in Childhood: Molecular, Neurobiological and Genetic Aspects DOI Open Access
Stefan Bittmann

Asian Journal of Pediatric Research, Год журнала: 2024, Номер 14(8), С. 8 - 17

Опубликована: Июль 27, 2024

Animals often exhibit repetitive and predictable behaviors. These actions can be learned become habits, which advantageous from an evolutionary standpoint as they reduce cognitive strain attentional resources. Repetitive behaviors also intentional conscious, occurring without habit formation, especially in normal child development or certain neuropsychiatric conditions. When these disrupt social interactions daily functioning, may considered pathological. Conditions such Gilles de la Tourette syndrome (GTS) manifest compulsive, stereotyped, ritualistic The dopaminergic serotonergic pathways are believed to play important role the of GTS. striatum nucleus basal ganglia is a key regulating through its connections with various areas cortex. However, specific mechanisms within striatum, including organization, cellular functions, connections, still actively researched. At level, post-mortem studies have found reduced number parvalbumin-expressing cholinergic interneurons. There extensive evidence that signal transmission disrupted. This work focus on overview special molecular aspects, treatment options recent research new targets treat this rare hereditary disorder childhood.

Язык: Английский

The Landscape of Shared and Divergent Genetic Influences across 14 Psychiatric Disorders DOI Creative Commons
Andrew D. Grotzinger, Josefin Werme, Wouter J. Peyrot

и другие.

medRxiv (Cold Spring Harbor Laboratory), Год журнала: 2025, Номер unknown

Опубликована: Янв. 15, 2025

Abstract Psychiatric disorders display high levels of comorbidity and genetic overlap 1,2 . Genomic methods have shown that even for schizophrenia bipolar disorder, two long-thought to be etiologically distinct 3 , the majority signal is shared 4 Furthermore, recent cross-disorder analyses uncovered over a hundred pleiotropic loci across eight 5 However, full scope disorder-specific basis psychopathology remains largely uncharted. Here, we address this gap by triangulating suite cutting-edge statistical functional genomic applied 14 childhood- adult-onset psychiatric (1,056,201 cases). Our identify characterize five underlying factors 6 explain variance individual (∼66% on average) are associated with 268 loci. We observed particularly polygenic 7 local correlation 8 very few 9 defined by: ( i ) disorder (“SB factor”), ii major depression, PTSD, anxiety (“internalizing factor”). At level, multiple 10–12 which demonstrated SB factor was substantially enriched in genes expressed excitatory neurons, whereas internalizing oligodendrocyte biology. By comparison, all broad biological processes (e.g., transcriptional regulation). These results indicate increasing differentiation function at different risk, from quite general vulnerability more specific pathways subsets disorders. observations may inform neurobiologically valid nosology implicate novel targets therapeutic developments designed treat commonly occurring comorbid presentations.

Язык: Английский

Процитировано

1
Cross-trait multivariate GWAS confirms health implications of pubertal timing DOI Creative Commons

Siquan Zhou,

Yujie Xu,

Jingyuan Xiong

и другие.

Nature Communications, Год журнала: 2025, Номер 16(1)

Опубликована: Янв. 18, 2025

Pubertal timing is highly variable and associated with long-term health outcomes. Phenotypes pubertal include age at menarche, voice break, first facial hair growth spurt, seems to have a shared genetic architecture between the sexes. However, puberty phenotypes primarily been assessed separately, failing account for genetics, which limits reliability of purported implications. Here, we model common using multivariate GWAS, an effective population 514,750 European participants. We find 266 independent variants in 197 loci, including 18 novel variants. Transcriptomic, proteome imputation fine-mapping analyses reveal genes causal timing, KDM4C, LEPR, CCNC, ACP1, PCSK1. Linkage disequilibrium score regression Mendelian randomisation analysis establish associations earlier both accelerated ageing risk developing cardiovascular disease osteoporosis. that alanine aminotransferase, glycated haemoglobin, high-density lipoprotein cholesterol Parabacteroides levels are mediators these relationships, controlling oily fish retinol intake may be beneficial promoting healthy development.

Язык: Английский

Процитировано

0
Multigenerational family coaggregation study of obsessive-compulsive disorder and cardiometabolic disorders DOI Creative Commons

Anna Holmberg,

Josep Pol-Fuster, Ralf Kuja‐Halkola

и другие.

BMJ Mental Health, Год журнала: 2025, Номер 28(1), С. e301323 - e301323

Опубликована: Янв. 1, 2025

Background Obsessive-compulsive disorder (OCD) is associated with an increased risk of morbidity and mortality due to cardiometabolic disorders. Whether this association driven by familial factors unknown. This population-based family study explored the co-aggregation OCD Methods We identified 6 049 717 individuals born in Sweden between 1950 2008, including 50 212 OCD, followed them up 2020. These were linked their mothers, fathers, full siblings, maternal paternal half aunts, uncles cousins. estimated cardiovascular diseases (CVD) metabolic disorders (including obesity, type 2 diabetes hyperlipidaemia), comparing relatives probands without OCD. Cox proportional hazards regression models, incorporating time-varying exposures, HRs. Results was CVD (HR 1.47; 95% CI 1.43 1.51), obesity 1.69; 1.63 1.74), 2.01; 1.90 2.12) hyperlipidaemia 1.42; 1.33 1.52). The exhibited small risks (HRs from 1.01 1.11) 1.03 1.20). Slightly for observed mothers 1.11; 1.07 1.15) siblings 1.12; 1.05 1.20), while it only 1.06; 1.02 1.10). Conclusions Our results do not support a major contribution disorders, suggesting more prominent role unique environmental factors.

Язык: Английский

Процитировано

0
Genome-Wide Association Study of Exercise Addiction Among Elite Wrestlers DOI Creative Commons
Celal Bulğay, Anıl Kasakolu, Türker Bıyıklı

и другие.

Brain Sciences, Год журнала: 2025, Номер 15(2), С. 102 - 102

Опубликована: Янв. 22, 2025

Background: Exercise addiction, marked by an inability to control exercise and associated with distress that clinically impairs daily activities, is a significant but underrecognized issue in physical activity health. While its physiological, psychological, behavioral aspects have been studied, the genetic basis of addiction remains poorly understood, requiring further investigation. The present study conducted genome-wide association among elite Turkish wrestlers. Methods: sample comprised 67 male wrestlers (34 freestyle 33 Greco-Roman wrestlers). was assessed using Addiction Scale. Whole-genome genotyping performed DNA microarray. Results: Using approach (p < 1.0 × 10−⁵), we identified six suggestively single-nucleotide polymorphisms (SNPs) status. Of these, high-addiction alleles five SNPs (PRDM10 rs74345126, near PTPRU rs72652685, HADHB rs6745226, XIRP2 rs17614860, GAREM2 rs1025542) previously increased risk mental health disorders such as anxiety depression or higher levels activity. We also examined potential associations between markers linked addiction-related traits obsessive–compulsive disorder cigarette smoking, personality negative emotions including neuroticism. this candidate gene 0.05), three additional same direction (DEFB135 rs4841662, BCL11A rs7599488, CSRNP3 rs1551336). Conclusions: provides preliminary evidence for highlighting specific may play role development condition

Язык: Английский

Процитировано

0
Pharmacogenetics of obsessive-compulsive disorder: Investigations of intragenic and regulatory region genetic variations DOI

Gwyneth Zai,

Clement C. Zai, Vanessa F. Gonçalves

и другие.

Progress in Neuro-Psychopharmacology and Biological Psychiatry, Год журнала: 2025, Номер unknown, С. 111315 - 111315

Опубликована: Март 1, 2025

Язык: Английский

Процитировано

0
Association Between Polygenic Risk and Symptom Severity Change After Cognitive Behavioral Therapy for Obsessive‐Compulsive Disorder DOI Creative Commons
Julia Boberg, John Wallert, Matthew Halvorsen

и другие.

American Journal of Medical Genetics Part B Neuropsychiatric Genetics, Год журнала: 2025, Номер unknown

Опубликована: Март 7, 2025

A large proportion of patients undergoing cognitive behavior therapy (CBT) for obsessive-compulsive disorder (OCD) do not respond sufficiently to treatment. Identifying predictors change in symptom severity after treatment could inform clinical decision-making, allow better-tailored interventions, and avoid failure. Prior research on response has, however, yielded inconsistent findings with limited utility. Here, we investigated the predictive power nine polygenic risk scores (PRSs) psychiatric traits 1598 OCD (1167 adults 431 children/adolescents) treated CBT Sweden Norway. We fitted linear mixed models adjusted age, sex, genotyping batch, first five ancestry PCs estimate associations between PRS from pre- post-treatment. The schizophrenia showed a modestly significant association (β = 0.013, p 0.04, R2 0.10), indicating that higher was associated smaller decrease severity. No other were significantly outcome. While these results await replication expansion, current phenotypes seem contribute meaningfully OCD.

Язык: Английский

Процитировано

0
Psychiatric genetics in the diverse landscape of Latin American populations DOI
Estela M. Bruxel, Diego Luiz Rovaris, Síntia Belangero

и другие.

Nature Genetics, Год журнала: 2025, Номер unknown

Опубликована: Апрель 2, 2025

Язык: Английский

Процитировано

0
A population-based multigenerational family co-aggregation study of severe infections and obsessive-compulsive disorder DOI Creative Commons
Josep Pol-Fuster, Lorena Fernández de la Cruz, Jan C. Beucke

и другие.

Biological Psychiatry, Год журнала: 2024, Номер unknown

Опубликована: Сен. 1, 2024

Язык: Английский

Процитировано

1
Genome-wide association study meta-analysis of 9,619 cases with tic disorders DOI Creative Commons
Nora I. Strom, Matthew Halvorsen, Jakob Grove

и другие.

Biological Psychiatry, Год журнала: 2024, Номер unknown

Опубликована: Окт. 1, 2024

Despite the significant personal and societal burden of tic disorders (TDs), treatment outcomes remain modest, necessitating a deeper understanding their etiology. Family history is biggest known risk factor, identifying genes could accelerate progress in field.

Язык: Английский

Процитировано

1
Obsessive-Compulsive Disorder DOI
Luís C. Farhat, Michael H. Bloch

Elsevier eBooks, Год журнала: 2024, Номер unknown

Опубликована: Янв. 1, 2024

Язык: Английский

Процитировано

1