AMACR polymorphisms are associated with prostate cancer risk and aggressiveness in a Korean study population

To investigate the potential relationship between sequence variants in the AMACR gene and prostate cancer risk in a Korean study cohort. We evaluated the association between 21 single nucleotide polymorphisms (SNPs) in the AMACR gene and prostate cancer risk as well as clinical characteristics (pathological stage and Gleason score) in Korean men (272 prostate cancer patients and 173 benign prostatic hyperplasia patients who underwent a prostate biopsy, which was negative for malignancy) using unconditional logistic regression. 8 AMACR sequence variants (rs3195676, rs10941112, rs4866402, rs34678, rs10941110, rs34676, rs16892096, and rs250414) had a significant association with prostate cancer risk (age-adjusted odds ratio [OR]=0.74, P=0.05; OR=0.74, P=0.04; OR=0.64, P=0.03; OR=1.45, P=0.01; OR=0.74, P=0.04; OR=1.46, P=0.01; OR=0.65, P=0.05; and OR=0.72, P=0.03, respectively). 2 haplotypes (AMACR_B1_ht1 and AMACR_B1_ht2) showed a significant association with prostate cancer risk (OR=0.70, P=0.02; and OR=1.49, P=0.01, respectively). 8 SNPs (rs3195676, rs10941112, rs10941110, rs168803, rs16892096, rs10472909, rs2652130, and rs12659370) and 1 haplotype (AMACR_B2_ht2) were significantly associated with pathological stage, 3 SNPs (rs16892066, rs16892064, and rs840380) and 2 haplotypes (AMACR_B2_ht3 and AMACR_B2_ht4) were also significantly related to Gleason score. Some AMACR gene polymorphisms in Korean men might not only be associated with prostate cancer risk but also significantly related to pathologic stage and Gleason score. However, current limitation for small cohort with not-healthy control group might have false positive effects. These results should be validated via further large-scale studies.