Resumen
Mutation in telomerase reverse transcriptase (TERT) has been reportedly related to risks of prostate cancer (PCa). However, prior genome-wide association studies (GWAS) were limited to inconsistency, small-scale, one-outcome phenotype, or single ancestry. In this study, we used two large-scale population datasets from European and Chinese ancestries to comprehensively estimate the association of TERT loci polymorphisms with prostate tumorigenesis and severity. Results of this study showed that (1) over half of the risk variants were located at the intron 2 region in both populations; (2) seven novel loci situated at intron 2, intron 6, intron 9, and intron 12 were first identified to be related to PCa risk; (3) SNPs rs2736100 and rs2853677 were significantly associated with aggressive PCa, whereas rs35812074 was marginally related to PCa death; (4) most identified loci were different between Europeans and Chinese. These findings support the evidence regarding TERT polymorphisms in relation to PCa risk and prognosis, and indicate the heterogeneous genetic architectures of PCa susceptibility loci among distinct ancestries.