Integrating genome-wide association study, chromosomal enhancer maps and element-gene interaction networks detected brain regions related associations between elements and ADHD/IQ

2018 ◽  
Vol 353 ◽  
pp. 137-142 ◽  
Author(s):  
Mei Ma ◽  
Xiao Liang ◽  
Shiqiang Cheng ◽  
Lu Zhang ◽  
Bolun Cheng ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Gene Interaction ◽  
Brain Regions ◽  
Interaction Networks ◽  
Genome Wide Association ◽  
Gene Interaction Networks ◽  
Genome Wide

scholarly journals Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects

2021 ◽  
Author(s):  
Lynne Krohn ◽  
Karl Heilbron ◽  
Cornelis Blauwendraat ◽  
Regina H. Reynolds ◽  
Eric Yu ◽  
...  
Keyword(s):  
Association Study ◽  
Rem Sleep ◽  
Genome Wide Association Study ◽  
Genetic Risk Score ◽  
Rem Sleep Behavior Disorder ◽  
Behavior Disorder ◽  
Brain Regions ◽  
Genome Wide Association ◽  
Sleep Behavior ◽  
Genome Wide

ABSTRACTRapid eye movement (REM) sleep behavior disorder (RBD), enactment of dreams during REM sleep, is an early clinical symptom of alpha-synucleinopathies. RBD also defines more severe forms of alpha-synucleinopathies. The genetic background of RBD and its underlying mechanisms are not well understood. Here, we performed the first genome-wide association study of RBD, identifying five RBD risk loci. Expression analyses highlight SNCA-AS1 and SCARB2 differential expression in different brain regions in RBD, with SNCA-AS1 further supported by colocalization analyses. Genetic risk score and other analyses provide further insights into RBD genetics, highlighting RBD as a unique subpopulation that will allow future early intervention.

scholarly journals Novel insights into the common heritable liability to addiction: a multivariate genome-wide association study

2021 ◽  
Author(s):  
Tabea Schoeler ◽  
Jessie Baldwin ◽  
Andrea Allegrini ◽  
Wikus Barkhuizen ◽  
Andrew McQuillin ◽  
...  
Keyword(s):  
Association Study ◽  
Genetic Architecture ◽  
Genome Wide Association Study ◽  
Genetic Correlations ◽  
Brain Regions ◽  
Genome Wide Association ◽  
Drug Reinforcement ◽  
Heroin Use ◽  
Genome Wide ◽  
The Common

Addiction to nicotine, alcohol and cannabis commonly co-occurs, which is thought to partly stem from a common heritable liability. To elucidate its genetic architecture, we modelled the common liability to addiction, inferred from genetic correlations among six measures of dependence and frequency of use of nicotine, alcohol and cannabis. Forty-two genetic variants were identified in the multivariate genome-wide association study on the common liability to addiction, of which 67% were novel and not associated with the six phenotypes. Mapped genes highlighted the role of dopamine (e.g., dopamine D2 gene), and showed enrichment for a several components of the central nervous systems (e.g., mesocorticolimbic brain regions) and molecular pathways (dopaminergic, glutamatergic, GABAergic) that are thought to modulate drug reinforcement. Genetic correlations with other traits were most prominent for reward-related behaviours (e.g., risk-taking, cocaine and heroin use) and mood (e.g., depression, insomnia). These genome-wide results triangulate and expand previous preclinical and human studies focusing on the neurobiological substrates of addiction, and help to elucidate the common genetic architecture underlying addiction.

scholarly journals Epigenome-wide association study of narcolepsy-affected lateral hypothalamic brains, and overlapping DNA methylation profiles between narcolepsy and multiple sclerosis

SLEEP ◽  
2019 ◽  
Vol 43 (1) ◽  
Author(s):  
Mihoko Shimada ◽  
Taku Miyagawa ◽  
Akari Takeshima ◽  
Akiyoshi Kakita ◽  
Hiromi Toyoda ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Dna Methylation ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Basic Protein ◽  
Temporal Cortex ◽  
Brain Regions ◽  
Genome Wide Association ◽  
Genome Wide ◽  
A Genome

Abstract Narcolepsy with cataplexy is a sleep disorder caused by a deficiency in hypocretin neurons in the lateral hypothalamus (LH). Here we performed an epigenome-wide association study (EWAS) of DNA methylation for narcolepsy and replication analyses using DNA samples extracted from two brain regions: LH (Cases: N = 4; Controls: N = 4) and temporal cortex (Cases: N = 7; Controls: N = 7). Seventy-seven differentially methylated regions (DMRs) were identified in the LH analysis, with the top association of a DMR in the myelin basic protein (MBP) region. Only five DMRs were detected in the temporal cortex analysis. Genes annotated to LH DMRs were significantly associated with pathways related to fatty acid response or metabolism. Two additional analyses applying the EWAS data were performed: (1) investigation of methylation profiles shared between narcolepsy and other disorders and (2) an integrative analysis of DNA methylation data and a genome-wide association study for narcolepsy. The results of the two approaches, which included significant overlap of methylated positions associated with narcolepsy and multiple sclerosis, indicated that the two diseases may partly share their pathogenesis. In conclusion, DNA methylation in LH where loss of orexin-producing neurons occurs may play a role in the pathophysiology of the disease.

Genome wide association study on memory in schizophrenia patients and unaffected probands

2009 ◽  
Vol 42 (05) ◽  
Author(s):  
B Konte ◽  
I Giegling ◽  
AM Hartmann ◽  
H Konnerth ◽  
P Muglia ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Genome Wide
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