Data-mining approach for screening of rare genetic elements associated with predisposition of prostate cancer in South-Asian populations

Objective: Prostate cancer (PCa) is a complex heterogeneous disease and a major health risk to men throughout the world. The potential tumorigenic genetic hallmarks associated with PCa include sustaining proliferative signaling, resisting cell death, aberrant androgen receptor signaling, androgen independence, and castration resistance. Despite numerous comprehensive genome-wide association studies (GWAS), certain genetic elements associated with PCa are still unknown. This situation demands more systematic GWAS studies in different populations. This study presents a computational strategy for identification of novel and uncharacterized genetic factors associated with incidence of PCa in South Asian populations. Materials and methods: Genome-wide association studies (GWAS) catalog and Gene Expression Omnibus (GEO) furnished PCa-related genetic studies. Database for Annotation, Visualization and Integrated Discovery (DAVID) functionally annotated these genes and wANNOVAR separated South Asian (SAS) populations - specific genetic factors at MAF threshold <0.05. Results: The study reports 195 genes as potential contributors to prostate cancer in SAS populations. Some of identified genes are PYGO2, RALBP1, RFX5, SLC22A3, VPS53, HMCN1 and KIF1C. Conclusion: The identified genetic elements may assist in development of population-specific screening and management strategies for PCa. Moreover, this approach may also be used to retrieve potential genetic elements associated with other types of cancers.