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

15.0K
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...
15.0K

You might also read

Related Articles

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

Sort by
Same author

Hemochromatosis risk genotype is not associated with colorectal cancer or age at its diagnosis.

HGG advances·2022
Same author

Author Correction: GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer.

Nature communications·2021
Same author

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

JCO precision oncology·2021
Same author

Transcriptome analysis discloses dysregulated genes in normal appearing tumor-adjacent thyroid tissues from patients with papillary thyroid carcinoma.

Scientific reports·2021
Same author

A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.

Molecular genetics & genomic medicine·2021
Same author

Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study.

The American journal of clinical nutrition·2021

Related Experiment Video

Updated: Dec 5, 2025

Discovery of Driver Genes in Colorectal HT29-derived Cancer Stem-Like Tumorspheres
06:52

Discovery of Driver Genes in Colorectal HT29-derived Cancer Stem-Like Tumorspheres

Published on: July 22, 2020

6.8K

Identifying Novel Susceptibility Genes for Colorectal Cancer Risk From a Transcriptome-Wide Association Study of

Xingyi Guo1, Weiqiang Lin2, Wanqing Wen1

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

Gastroenterology
|October 15, 2020
PubMed
Summary

This study used transcriptome-wide association studies (TWAS) to identify new colorectal cancer (CRC) susceptibility genes. Findings offer insights into CRC development mechanisms, highlighting CABLES2

Keywords:
CABLES2Colorectal CancerSusceptibility GenesTWAS

More Related Videos

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers
03:37

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers

Published on: March 1, 2024

1.1K
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

10.5K

Related Experiment Videos

Last Updated: Dec 5, 2025

Discovery of Driver Genes in Colorectal HT29-derived Cancer Stem-Like Tumorspheres
06:52

Discovery of Driver Genes in Colorectal HT29-derived Cancer Stem-Like Tumorspheres

Published on: July 22, 2020

6.8K
Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers
03:37

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers

Published on: March 1, 2024

1.1K
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

10.5K

Area of Science:

  • Genetics
  • Molecular Biology
  • Cancer Research

Background:

  • Genome-wide association studies (GWAS) have identified numerous colorectal cancer (CRC) risk loci, but the underlying susceptibility genes and mechanisms remain largely unknown.
  • Understanding these genetic factors is crucial for elucidating CRC pathogenesis and developing targeted therapies.

Purpose of the Study:

  • To conduct a transcriptome-wide association study (TWAS) to identify novel putative susceptibility genes for colorectal cancer (CRC).
  • To investigate the biological mechanisms underlying CRC development by examining the functional roles of identified genes.

Main Methods:

  • Gene-expression prediction models were constructed using transcriptome and genetic data from the Genotype-Tissue Expression (GTEx) project.
  • TWAS was performed by integrating these models with GWAS data from a large cohort of European ancestry individuals (58,131 cases, 67,347 controls).
  • Functional validation included dual-luciferase reporter assays and knockdown experiments in CRC cells and tumor xenografts.

Main Results:

  • Twenty-five genes were significantly associated with CRC risk, including five novel genes: PYGL, RPL28, CAPN12, MYH7B, and MAP1L3CA.
  • Nine previously unreported genes were identified within known GWAS loci, with four remaining significant after adjustment.
  • Colocalization analysis and TWAS identified an additional 12 putative susceptibility genes.
  • The risk allele rs1741640 was shown to affect CABLES2 promoter activity, and CABLES2 knockdown confirmed its vital role in colorectal carcinogenesis.

Conclusions:

  • The study successfully identified novel putative susceptibility genes for colorectal cancer (CRC).
  • These findings provide new insights into the biological mechanisms driving CRC development.
  • The results underscore the importance of integrating genetic and transcriptomic data for understanding complex diseases.