Creative Corner

"Shark Tea" submitted by Grey D'Andrea, University of Illinois

 

Photography

"Hey There Billie" submitted by Karly Jans, Iowa State University

Student Abstract

Genome-Wide Association Study with the All of Us Database Identifies Skin Cancer Genes

Jenna Abrams and Dr. Jicai Jiang

Department of Animal Science, North Carolina State University

August 2022 – December 2023

Background

The All of Us Research Program is a large-scale research initiative launched by the U.S. National Institutes of Health (NIH) in 2015, aiming to gather data from at least one million people living in the United States in order to advance precision medicine. The goal of this study is to use the large All of Us genomic database to study the genetic architecture of skin cancer (that is, what genes affect the risk of a person developing skin cancer). 

Methods

A genome-wide association study (GWAS) was conducted on chip genotypes of 1.8M SNPs in 47,673 European Americans, consisting of 7,551 cases and 40,122 controls. We used a state-of-the-art GWAS software, SLEMM (https://github.com/jiang18/slemm), for the association analysis on the Google-Cloud-based All of Us Research Workbench.

Results

Our GWAS identified a total of seven genetic loci associated with increased skin cancer risks, including two newly discovered loci. Of the five known loci, our results provide additional evidence supporting their involvement in skin cancer development, pinpointing several candidate genes such as SLC45A2, IRF4, TYR, TCF25, TUBB3, and RALY. SLC45A2 provides instructions for making a protein located in specialized cells called melanocytes. IRF4 protects arteries against neointima formation by promoting the expression of KLF4 by directly binding to its promoter. TYR provides instructions for making an enzyme called tyrosinase which is essential in melanin production. In the two newly discovered loci, TGM3, which encodes transglutaminase 3, seems to be a candidate gene for skin cancer, as a previous study showed it is expressed in basal cell carcinoma (a type of skin cancer).

Conclusion

In summary, our GWAS with the All of Us data identified several previously known candidate genes and new genes associated with skin cancers.

Creative Corner

Submitted by Sydney Long, Iowa State University

Photography

"Hey There Billie" submitted by Karly Jans, Iowa State University