Epidemiology, University of Michigan, 1415 Washington Heights, 4647 SPH Tower, Ann Arbor, MI.
Several prostate cancer (PCa) genome-wide association studies (GWAS) have identified risk-associated genetic variants primarily in populations of European descent. Less is known about the association of these variants in high risk populations, including men of African descent and men with a family history of PCa. This paper provides a detailed review of published studies of PCa-associated genetic variants originally identified in GWAS and replicated in high-risk populations.
Articles replicating GWAS findings (NHGRI GWAS database) were identified by searching PubMed and relevant data was extracted.
Eleven replication studies were eligible for inclusion in this review. Of over 30 single nucleotide polymorphisms (SNPs) identified in PCa GWAS, 19 SNPs (63%) were replicated in men of African descent and 10 SNPs (33%) were replicated in men with familial and/or hereditary PCa. The majority of SNPs were located at the 8q24 region with modest effect sizes (OR 1.11-2.63 in African American men and OR 1.3-2.51 in men with familial PCa). All replicated SNPs at 8q24 among men of African descent were within or near Regions 2 and 3.
This systematic review revealed several GWAS markers with replicated associations to PCa in men of African descent and men with familial/hereditary PCa. The 8q24 region continues to be the most implicated in PCa risk. These replication data support ongoing study of clinical utility and potential function of these PCa-associated variants in high-risk men. Impact: The replicated SNPs presented in this review hold promise for personalizing risk assessment for PCa for high-risk men upon further study.
Ishak MB, Giri VN. Are you the author?
Reference: Cancer Epidemiol Biomarkers Prev. 2011 Jul 12. Epub ahead of print.