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

15.7K
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...
15.7K
Gene Families01:57

Gene Families

9.9K
Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
9.9K
Gene Flow02:39

Gene Flow

37.8K
Gene flow is the transfer of genes among populations, resulting from either the dispersal of gametes or from the migration of individuals.
37.8K
Gene Conversion02:08

Gene Conversion

10.6K
Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
10.6K
Gene Therapy00:59

Gene Therapy

27.6K
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
27.6K
What is Gene Expression?01:42

What is Gene Expression?

196.7K
Overview
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is made up of nucleotides and proteins consist of amino...
196.7K

You might also read

Related Articles

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

Sort by
Same author

Risk of gastric or peritoneal recurrence, and long-term outcomes, following pancreatic cancer resection with preoperative endosonographically guided fine needle aspiration.

Endoscopy·2013
Same author

Analysis of related factors on the deformity correction of balloon kyphoplasty.

AJNR. American journal of neuroradiology·2013
Same author

Family-based association of an ANK3 haplotype with bipolar disorder in Latino populations.

Translational psychiatry·2013
Same author

Observation of associated near-side and away-side long-range correlations in sqrt[s(NN)]=5.02 TeV proton-lead collisions with the ATLAS detector.

Physical review letters·2013
Same author

Search for dark matter annihilations in the sun with the 79-string IceCube detector.

Physical review letters·2013
Same author

Distribution of androgen and oestrogen receptors-α in the seminal vesicle-related spinal neurones in male rats.

Journal of neuroendocrinology·2013

Related Experiment Video

Updated: Feb 4, 2026

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
05:01

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

Published on: July 1, 2020

3.8K

Gene-based GWAS analysis for consecutive studies of GEFOS.

W Zhu1,2, C Xu2, J-G Zhang2

  • 1College of Life Sciences, Hunan Normal University, Changsha, 410081, Hunan, China.

Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
|October 12, 2018
PubMed
Summary
This summary is machine-generated.

This study used a gene-based analysis to discover new bone mineral density (BMD) genes beyond single-nucleotide polymorphism (SNP) studies. The findings enhance our understanding of osteoporosis genetics and identify novel BMD-associated genes.

Keywords:
BMDGEFOSGene-based analysisOsteoporosis

More Related Videos

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

4.9K
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

19.4K

Related Experiment Videos

Last Updated: Feb 4, 2026

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
05:01

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

Published on: July 1, 2020

3.8K
Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

4.9K
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

19.4K

Area of Science:

  • Genetics
  • Bioinformatics
  • Skeletal Biology

Background:

  • Genome-wide association studies (GWASs) have identified ~100 loci for bone mineral density (BMD), but explain limited heritability for osteoporosis.
  • Existing single-nucleotide polymorphism (SNP)-based GWASs have limitations in capturing the full genetic architecture of BMD.
  • A gene-based analysis approach is needed to identify additional BMD-associated genes and improve understanding of osteoporosis risk.

Purpose of the Study:

  • To identify novel genes associated with bone mineral density (BMD) using a gene-based analysis.
  • To integrate multilevel biological evidence and bioinformatics for a systemic identification of BMD-associated genes.
  • To explore the roles of identified genes in skeletal metabolism and validate their association with BMD.

Main Methods:

  • Combined summary statistic P-values of SNPs across individual genes from two large Genetic Factors for Osteoporosis (GEFOS) GWAS meta-analyses.
  • Performed differential gene expression analysis to assess the functional relevance of identified genes in bone.
  • Evaluated the consistency of BMD-associated variant identification by correlating P-values between the two GEFOS datasets.

Main Results:

  • The gene-based strategy identified additional BMD-associated genes with genome-wide significance compared to SNP-based analysis.
  • Three novel BMD-associated genes (UBTF, AAAS, C11orf58) were identified and partially validated through gene expression analysis.
  • Correlation analysis demonstrated moderately high consistency of potential BMD-associated variants between the two GEFOS studies.

Conclusions:

  • Gene-based analysis serves as a valuable supplementary strategy to SNP-based GWASs for BMD gene discovery.
  • This approach enhances statistical power and testing stability in identifying BMD-associated genes.
  • The study successfully identified novel BMD-associated genes, contributing to a deeper understanding of skeletal metabolism and osteoporosis genetics.