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

13.3K
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...
13.3K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.0K
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,...
15.0K

You might also read

Related Articles

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

Sort by
Same author

A deep learning framework for efficient pathology image analysis.

Nature communications·2026
Same author

Circulating metabolite biomarkers associated with prostate cancer risk in Black Americans: findings from the Southern Community Cohort Study.

British journal of cancer·2026
Same author

Deconvolution-based cell-type specific DNA methylation-wide and transcriptome-wide association studies identify risk CpG sites and genes associated with colorectal cancer risk.

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

Systemic Lipid Peroxidation and Colorectal Cancer Risk: A Time-Varying Relationship.

International journal of cancer·2026
Same author

Evaluating statistical models for overdispersed multi-omics data: a multiplex immunofluorescence case study.

American journal of epidemiology·2026
Same author

Leveraging Electronic Health Record Data to Evidence Collider Stratification Bias and Inform Clinical Epidemiology: Obesity, Diabetes and Rotator Cuff Tears.

American journal of epidemiology·2026

Related Experiment Video

Updated: Jun 26, 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

Large-Scale Alternative Polyadenylation-Wide Association Studies to Identify Putative Cancer Susceptibility Genes.

Xingyi Guo1,2, Jie Ping1, Yaohua Yang3,4

  • 1Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee.

Cancer Research
|May 17, 2024
PubMed
Summary

This study reveals 58 genes linked to cancer risk through alternative polyadenylation (APA) and its regulation in 3' untranslated regions (3' UTRs). These findings highlight APA's role in genetic susceptibility to common cancers.

More Related Videos

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.1K
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

19.0K

Related Experiment Videos

Last Updated: Jun 26, 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
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.1K
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

19.0K

Area of Science:

  • Genetics
  • Molecular Biology
  • Cancer Research

Background:

  • Alternative polyadenylation (APA) influences mRNA processing in 3' untranslated regions (3' UTRs), impacting mRNA stability and translation.
  • Genetically regulated APA is a potential area for understanding cancer risk factors.

Purpose of the Study:

  • To investigate the associations between alternative polyadenylation (APA) levels and cancer risk using large-scale genome-wide association studies.
  • To identify genes and specific APA sites involved in genetic susceptibility to common cancers.

Main Methods:

  • Built genetic models to predict APA levels in multiple tissues using genotype and RNA sequencing data.
  • Applied prediction models to genome-wide association study data for six common cancers in European ancestry populations.
  • Utilized 3'-UTR APA quantitative trait loci, colocalization analyses, and luciferase reporter assays to validate findings.

Main Results:

  • Identified 58 risk genes (76 APA sites) associated with at least one cancer, including 25 novel susceptibility genes.
  • 97.4% of identified risk APAs were supported by 3'-UTR APA quantitative trait loci.
  • Functional assays confirmed that risk alleles of specific 3'-UTR variants increase posttranscriptional activity and promote cancer cell proliferation and migration.

Conclusions:

  • Systematic evaluation of APA associations with cancer risk reveals significant genetic links.
  • Genetically regulated APA of 3' UTRs contributes to genetic susceptibility to common cancers.
  • The study identifies novel genes and mechanisms underlying cancer risk through APA.