Systematic Evaluation of Cross Population Polygenic Risk Score on Colorectal Cancer

Abstract

Abstract The number of findings in cancer genomics research has grown rapidly in the last decade due to the decline in the cost of human sequencing and genotyping. However, the majority of the reported significant marker associated with cancer traits are based on European and East Asian population. Large population such as South Asian and South-East Asian population are under-represented in genomics research. In this study, we explored the possibility of computing a Polygenic Risk Score (PRS) of colorectal cancer on our test sample based on reported significant Single Nucleotide Polymorphism (SNP). The SNPs used to compute the risk score were collected from GWAS Central and GWAS Catalog. Significant SNPs from IC3 study were used as a benchmark. The result shows that calculating colorectal cancer risk score using reported significant marker from different population group is possible. The p-value of our statistic model shows significant differences between case and control group risk score.