Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Attention-Deficit/Hyperactivity Disorder01:30

Attention-Deficit/Hyperactivity Disorder

1.1K
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
1.1K
Human Genetics01:28

Human Genetics

1.7K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.7K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

16.0K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
16.0K
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

53
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
53
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

54
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
54
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

63
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
63

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Comparison of methods for assessing effects of risk factors on disease progression in Mendelian randomization under index event bias.

American journal of human genetics·2026
Same author

Differential DNA methylation in blood as potential mediator of the association between ambient PM<sub>2.5</sub> and cerebrospinal fluid biomarkers of Alzheimer's disease among a cognitively normal population-based cohort.

Molecular psychiatry·2026
Same author

Integrating dorsolateral prefrontal cortex multi-omics and GWAS summary data reveals genetic etiology of Parkinson's disease.

medRxiv : the preprint server for health sciences·2026
Same author

Association between maternal organophosphate esters metabolite levels during pregnancy and internalizing and externalizing behaviors in children at 2-5 years.

Environmental epidemiology (Philadelphia, Pa.)·2026
Same author

Identifying condition-related cell-cell communication events using supervised tensor analysis.

American journal of human genetics·2026
Same author

DEVELOPMENT AND APPLICATION OF BRAIN TISSUE BASED MULTI-OMICS PROFILE SCORES FOR ALZHEIMER'S DISEASE.

Research square·2026
Same journal

Predicting Chemotherapy Response from Staging Laparoscopy Images.

medRxiv : the preprint server for health sciences·2026
Same journal

Development and External Validation of a Machine Learning Model for 10-Year Ischemic Stroke Risk Prediction in Diverse Populations.

medRxiv : the preprint server for health sciences·2026
Same journal

MCH-Guard: Multimodal Machine Learning Framework for Risk Stratification of Cerebral Microhemorrhage Risk in the Alzheimer's Disease Neuroimaging Initiative.

medRxiv : the preprint server for health sciences·2026
Same journal

Genetic and maternal environmental contributions to estimated fetal weight at 20 weeks gestation compared with birthweight.

medRxiv : the preprint server for health sciences·2026
Same journal

Better immediate declarative memory is associated with forgetting during locomotor adaptation in chronic stroke and in older adults.

medRxiv : the preprint server for health sciences·2026
Same journal

An empirical Bayes framework for burden and dispersion association tests helps prioritize rare variants associated with Alzheimer's disease.

medRxiv : the preprint server for health sciences·2026
See all related articles

Related Experiment Video

Updated: Feb 28, 2026

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

19.5K

Multi-tissue transcriptome-wide association study identifies 29 risk genes associated with

Sarina Abrishamcar1, Qile Dai2, Jingjing Yang3

  • 1Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA.

Medrxiv : the Preprint Server for Health Sciences
|February 27, 2026
PubMed
Summary
This summary is machine-generated.

This study used transcriptome-wide association studies (TWAS) to identify novel genes linked to attention-deficit/hyperactivity disorder (ADHD). Findings offer new targets for ADHD research and drug discovery.

Keywords:
Attention-deficit/hyperactivity-disorder (ADHD)brain tissueexpression quantitative trait loci (eQTL)genetically regulated gene expression (GReX)multi-tissue analysistranscriptome-wide association study (TWAS)

More Related Videos

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

9.7K
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

23.4K

Related Experiment Videos

Last Updated: Feb 28, 2026

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

19.5K
Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

9.7K
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

23.4K

Area of Science:

  • Neurogenetics
  • Psychiatric Disorders
  • Bioinformatics

Background:

  • Attention-deficit/hyperactivity disorder (ADHD) is a common, heritable neurodevelopmental disorder affecting millions of children.
  • The genetic underpinnings of ADHD remain largely uncharacterized.
  • Transcriptome-wide association studies (TWAS) integrate gene expression data with genetic association data to identify risk genes for complex traits.

Purpose of the Study:

  • To conduct a multi-tissue TWAS for ADHD to better understand its genetic architecture.
  • To identify specific genes whose genetically regulated expression is associated with ADHD risk.
  • To discover novel genetic risk factors for ADHD and potential therapeutic targets.

Main Methods:

  • Applied the OTTERS TWAS framework using cis-expression quantitative trait loci (eQTL) data from MetaBrain across cortex, basal ganglia, and cerebellum.
  • Integrated gene expression data with large-scale ADHD genome-wide association study (GWAS) summary statistics (n=225,534).
  • Performed fine-mapping, colocalization, and functional enrichment analyses to prioritize candidate genes and pathways.

Main Results:

  • Identified 29 significant TWAS risk genes for ADHD across the three brain tissues.
  • Discovered six novel candidate genes (MPL, C1orf210, MDFIC, NKX2-2, FAM183A, HIGD1A) not previously linked to ADHD.
  • Found enrichment for neurodevelopmental pathways in cortex and basal ganglia, and a significant protein-protein interaction network.

Conclusions:

  • This multi-tissue TWAS successfully refined the genetic architecture of ADHD by implicating specific genes.
  • The identification of novel ADHD-associated genes provides new avenues for translational research and drug development.
  • Findings contribute to a deeper understanding of the genetic basis of ADHD and related neurodevelopmental conditions.