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

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.2K
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...
13.2K
Human Genetics01:28

Human Genetics

542
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...
542
Sex-linked Disorders01:43

Sex-linked Disorders

101.8K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
101.8K
Genetic Lingo01:11

Genetic Lingo

102.0K
Overview
102.0K
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

341
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
341
Incomplete Dominance01:43

Incomplete Dominance

22.0K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.0K

You might also read

Related Articles

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

Sort by
Same authorSame journal

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

Movement disorders : official journal of the Movement Disorder Society·2026
Same author

Histologically validated diffusion MRI signatures of neuroinflammation and neurodegeneration in Alzheimer disease.

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

Sex-biased Genetic Risk Loci and Causal Brain Proteins in Parkinson's Disease.

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

Blood-based circular RNAs for early diagnosis of Alzheimer's disease.

Nature medicine·2026
Same author

A TAD-informed aging-brain xQTL atlas of multi-modal and cell-type-resolved regulatory variation.

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

Plasma proteomic signatures of cellular aging predict human disease.

Nature medicine·2026

Related Experiment Video

Updated: Jun 12, 2025

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
10:41

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia

Published on: September 12, 2020

7.3K

Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.

Björn-Hergen Laabs1, Katja Lohmann2, Eva-Juliane Vollstedt2

  • 1Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany.

Movement Disorders : Official Journal of the Movement Disorder Society
|September 17, 2024
PubMed
Summary
This summary is machine-generated.

This large genome-wide association study (GWAS) found no common genetic variants linked to isolated dystonia. Further research using sequencing may uncover the genetic basis of this neurological disorder.

Keywords:
GWASage at onsetcase–controlclinical scoreisolated dystonia

More Related Videos

Rapid Genotyping of Animals Followed by Establishing Primary Cultures of Brain Neurons
09:51

Rapid Genotyping of Animals Followed by Establishing Primary Cultures of Brain Neurons

Published on: January 29, 2015

16.2K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

12.9K

Related Experiment Videos

Last Updated: Jun 12, 2025

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
10:41

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia

Published on: September 12, 2020

7.3K
Rapid Genotyping of Animals Followed by Establishing Primary Cultures of Brain Neurons
09:51

Rapid Genotyping of Animals Followed by Establishing Primary Cultures of Brain Neurons

Published on: January 29, 2015

16.2K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

12.9K

Area of Science:

  • Genetics
  • Neurology
  • Medical Research

Background:

  • Isolated dystonia exhibits significant heritability, yet prior genome-wide association studies (GWASs) have failed to identify robust genetic risk factors.
  • Previous smaller-scale studies lacked the power to detect genetic associations for isolated dystonia.

Purpose of the Study:

  • To conduct a large-scale genome-wide association study (GWAS) in over 6000 individuals to identify genetic risk factors for isolated dystonia.
  • To investigate genetic contributions to isolated dystonia using a well-characterized, multicenter sample.

Main Methods:

  • Array-based genome-wide association studies (GWASs) were performed on 4303 dystonia participants and 2362 controls of European ancestry.
  • Subgroup analyses considered age at onset, affected body regions, and a clinical score, with validation in 736 additional individuals.

Main Results:

  • The genome-wide association study (GWAS) did not identify any common genome-wide significant loci that could be replicated.
  • Power analyses suggest that the effects of individual genetic variants are likely very small in isolated dystonia.

Conclusions:

  • Moderate single-nucleotide polymorphism-based heritability suggests common variants do not significantly contribute to isolated dystonia in this cohort.
  • Sequence-based genome-wide association studies (GWASs), such as whole-genome sequencing, are recommended to elucidate the genetic basis of isolated dystonia.