Genome wide association study (GWAS) of cholangiocarcinoma (CCA)

Principal Investigator

Name
Katherine McGlynn

Degrees
Ph.D.

Institution
National Cancer Institute

Position Title
Senior Investigator

Email
mcglynnk@mail.nih.gov

About this CDAS Project

Study
PLCO (Learn more about this study)

Project ID
PLCO-631

Initial CDAS Request Approval
Jun 2, 2020

Title
Genome wide association study (GWAS) of cholangiocarcinoma (CCA)

Summary
The main objective of this study is to identify genetic risk variants associated with CCA in a large, well-powered GWAS. It is anticipated that successful completion of this study may eventually lead to new insights about etiology. In addition, the GWAS results may provide new insights into the pathophysiology of CCA and reveal the contributions of unsuspected pathogenic pathways to CCA development. Overall CCA will be examined, as will the subtypes intrahepatic and extrahepatic CCA and primary sclerosing cholangitis associated (PSC)-CCA. Cases will be drawn from populations in North America and Europe. Controls will be drawn from the PLCO population. All genotyping will be done at CGR using the GSA chip.

Aims

1) Examine associations between SNPs and CCA.
2) Examine associations by sex.
3) Examine associations between SNPs and intrahepatic and extrahepatic CCA separately.
4) Examine associations between SNPs and PSC-associated CCA.

Collaborators

Lewis R. Roberts, Mayo Clinic, Rochester, MN
Christopher I. Amos, Baylor College of Medicine, Houston, TX