Hindawi Publishing Corporation BioMed Research International Volume 2013, Article ID 394285, 11 pages http://dx.doi.org/10.1155/2013/394285 Clinical Study Genetic Variations of -Methylacyl-CoA Racemase Are Associated with Sporadic Prostate Cancer Risk in Ethnically Homogenous Koreans Sang-Jin Lee, 1 Jae Young Joung, 2 Hyekyoung Yoon, 3 Jeong Eun Kim, 2 Weon Seo Park, 2 Ho Kyung Seo, 2 Jinsoo Chung, 2 Jung-Ah Hwang, 4 Seung-Hyun Hong, 4 Seungyoon Nam, 4 Sohee Park, 3 Jeongseon Kim, 5,6 Kang Hyun Lee, 2 and Yeon-Su Lee 4 1 Genitourinary Cancer Branch, National Cancer Center, Goyang 410-769, Republic of Korea 2 Center for Prostate Cancer, National Cancer Center, 111 Jungbalsan-ro, Ilsandong-gu, Goyang, Gyeonggi-do 410-769, Republic of Korea 3 Cancer Biostatistics Branch, National Cancer Center, Goyang 410-769, Republic of Korea 4 Cancer Genomics Branch, National Cancer Center, 111 Jungbalsan-ro, Ilsandong-gu, Goyang, Gyeonggi-do 410-769, Republic of Korea 5 Molecular Epidemiology Branch, National Cancer Center, Goyang 410-769, Republic of Korea 6 Department of Biostatistics, Graduate School of Public Health, Yonsei University, Seoul 120-752, Republic of Korea Correspondence should be addressed to Kang Hyun Lee; uroonco@ncc.re.kr and Yeon-Su Lee; yslee2@ncc.re.kr Received 1 August 2013; Revised 7 October 2013; Accepted 9 October 2013 Academic Editor: Sue-Hwa Lin Copyright © 2013 Sang-Jin Lee et al. his is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Background. To assess if the variants of (R)-alpha-methyl-CoA racemase (AMACR) gene would be associated with the risk of sporadic prostate cancer in ethnically homogenous Koreans. Materials and Methods. We enrolled 194 patients with prostate cancer and 169 healthy controls. A total of 17 single nucleotide polymorphisms of the AMACR gene were selected. he distribution of each genotype and haplotype was analyzed and their association with the incidence of prostate cancer was evaluated. Further, we detected AMACR expression in tumor with immunohistochemistry and analyzed its association with genotype regarding prostate cancer risk. Results. AG or GG genotype of rs2278008 (E277K) tended to lower prostate cancer risk. he minor G allele was found to be a signiicant allele that decreased the risk of prostate cancer (adjusted OR, 0.57; 95% CI, 0.35–0.93,  value = 0.025). In patients expression AMACR, AG or GG genotype was also signiicant genotype in terms of prostate cancer risk (adjusted OR, 0.47; 95% CI, 0.26–0.87,  value = 0.017). Further, [GGCGG] haplotype consisted of ive coding SNPs of rs2278008, rs34677, rs2287939, rs10941112, and rs3195676 which decreased the risk of prostate cancer ( value = 0.047). Conclusions. Genetic variations of AMACR are associated with the risk of sporadic prostate cancer that underwent radical prostatectomy in Koreans. 1. Background he detailed etiology of prostate cancer is still unclear; it is a very heterogeneous disease due to the involvement of various inherited genetic elements and environment factors, includ- ing a fatty diet. Many studies have sought to identify the risk factors of prostate cancer, mainly by a targeted gene approach, which has conirmed the efect of known car- cinogenesis genes [1–4]. Recently, many studies including genome-wide association studies (GWAS) identiied signif- icant associations between lots of single nucleotide poly- morphisms (SNPs) and prostate cancer [5–9]. Some studies identiied chromosome 5p13, the site of the gene encoding (R)-alpha-methyl-CoA racemase (AMACR), as the location of a prostate cancer susceptibility gene [10–12]. AMACR is catalytically involved in fatty acid oxidation, which converts (R)-alpha-methyl-branched-chain fatty acyl- CoA ester to the (S)-stereoisomer. AMACR is critical in prostate cancer cell progression; the downregulation of AMACR expression hampers the proliferation of the LAPC- 4 androgen-responsive prostate cancer cells [13]. AMACR is abundantly expressed and is recognized as a standard tissue biomarker capable of a highly sensitive and speciic diagnosis of prostate cancer [14–16]. An AMACR spliced variant was