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

13.4K
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...
13.4K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.1K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.1K
Incomplete Dominance01:43

Incomplete Dominance

22.6K
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.
22.6K

You might also read

Related Articles

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

Sort by
Same author

Plasma HERV-K envelopE RNA: a minimally invasive biomarker for lung adenocarcinoma detection and prognostic assessment in the context of conventional serum tumor markers.

Frontiers in immunology·2026
Same author

Low-Profile Posterior Lumbar Fusion Combined With Proximal Interlaminar Coflex Dynamic Fixation for Lumbar Degenerative Diseases: A Comparative Study.

Orthopaedic surgery·2026
Same author

Energy-storage and self-healing microcapsules for secondary batteries: from preparation methods and electrochemical performance to enhancement mechanisms.

Chemical communications (Cambridge, England)·2026
Same author

HIV infection exacerbates ischemic brain injury through dysregulating phagocytosis and neuroinflammatory signals in macrophages/microglia via C1ql2.

Communications biology·2026
Same author

Particulate matter emissions from the iron and steel industry of China: Patterns, drivers, and implications.

Journal of the Air & Waste Management Association (1995)·2026
Same author

Automated diagnosis of keratitis from low-quality slit-lamp images using an improved generative adversarial network.

NPJ digital medicine·2026

Related Experiment Video

Updated: Jul 5, 2025

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

13.0K

Exome-Wide Sequencing Study Identified Genetic Variants Associated With Sarcopenic Obesity.

Qian Xu1,2, Qi-Gang Zhao1,2, Xin-Ling Ma1,2

  • 1Department of Epidemiology and Biostatistics, School of Public Health, Suzhou Medical College of Soochow University, Suzhou, Jiangsu, China.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
|January 24, 2024
PubMed
Summary

This study identified genetic factors contributing to sarcopenic obesity (SO), an age-related condition. Researchers discovered common and rare genetic variants associated with SO susceptibility, improving our understanding of its complex genetic basis.

Keywords:
Burden testSarcopenic obesityWhole‐exome sequencing

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.1K

Related Experiment Videos

Last Updated: Jul 5, 2025

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

13.0K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.1K

Area of Science:

  • Genetics
  • Gerontology
  • Metabolic Diseases

Background:

  • Sarcopenic obesity (SO) is a complex age-related condition characterized by excessive adiposity and diminished muscle mass or function.
  • While both obesity and sarcopenia have heritable components, the specific genetic underpinnings of SO remain incompletely understood.
  • Understanding the genetic architecture of SO is crucial for developing targeted interventions and preventative strategies.

Purpose of the Study:

  • To identify common and rare genetic variants associated with sarcopenic obesity (SO) susceptibility.
  • To expand the knowledge of the genetic architecture of SO.
  • To enhance the understanding of the genetic mechanisms contributing to SO.

Main Methods:

  • Conducted a large-scale exome-wide association analysis (EWAS) in UK Biobank participants.
  • Utilized both sequenced (2,887 cases, 113,284 controls) and imputed (4,003 cases, 161,990 controls) samples for robust analysis.
  • Performed single-variant association analysis, colocalization analysis with GTEx eQTLs, and gene-based burden tests for rare variants.

Main Results:

  • Identified a significant locus at 1q41 (lead SNP rs1417066, LYPLAL1-AS1) associated with SO (p < 1x10⁻⁸).
  • LYPLAL1-AS1 showed colocalization with SO in multiple musculoskeletal tissues.
  • Five genes (PDE3B, MYOZ3, SLC15A3, RNF130, TNK2) were significantly associated with SO through rare loss-of-function variants.

Conclusions:

  • This study successfully uncovered significant genetic effects of both common and rare variants on SO susceptibility.
  • The findings expand the current understanding of the genetic architecture underlying SO.
  • The identified genetic factors provide new insights into the biological mechanisms driving SO development.