Replication and Fine Mapping for Association of the C2orf43, FOXP4, GPRC6A and RFX6 Genes with Prostate Cancer in the Chinese Population

Background: Prostate cancer represents the leading cause of male death across the world. A recent genome-wide association study (GWAS) identified five novel susceptibility loci for prostate cancer in the Japanese population. This study is to replicate and fine map the potential association of these five loci with prostate cancer in the Chinese Han population. Methods: In Phase I of the study, we tested the five single nucleotide polymorphisms (SNPs) which showed the strongest association evidence in the original GWAS in Japanese. The study sample consists of 1,169 Chinese Hans, comprising 483 patients and 686 healthy controls. Then in phase II, flanking SNPs of the successfully replicated SNPs in Phase I were genotyped and tested for association with prostate cancer to fine map those significant association signals. Results: We successfully replicated the association of rs13385191 (located in the C2orf43 gene, P = 8.6061025), rs12653946 (P = 1.3361026), rs1983891 (FOXP4, P = 6.2261025), and rs339331 (GPRC6A/RFX6, P = 1.4261025) with prostate cancer. The most significant odds ratio (OR) was recorded as 1.41 (95 % confidence interval 1.18–1.68) for rs12653946. Rs9600079 did no