RESUMO
PURPOSE: Single nucleotide polymorphisms (SNPs) are considered very promising genetic markers for a better understanding of the genetic basis for complex diseases. Recently, various mutations have been described in the gene encoding the androgen receptor (AR) in a variety of disease, including male pattern baldness and prostate cancer. Analyzing the SNPs among different population or races shows unpredictable different expression patterns or diseases incidences. Because the incidence and mortality of prostate cancer varies worldwide, the SNPs may explain the differences among races. It has been reported that a synonymous A/G variant in exon I of the AR (NM_000044) at position 1754 showed different expression patterns in male pattern baldness. These observations raise important questions regarding the functional and clinical significances of the AR polymorphism. First, does the A/G variation of the AR have significance in prostate cancer? Second, if not, is the variation ethnogeographically specific in Koreans? To date, no studies have given answers to the above questions. MATERIALS AND METHODS: A total 120 unrelated subjects were enrolled between May and July 2004. Of the 120 patients, 80 had pathologically confirmed prostate cancer, 20 benign prostate hyperplasia (BPH) and 20 were non-bald men. Genomic DNAs were procured from the blood of the patients. A 416bp fragment in exon I of the AR was amplified, and the polymerase chain reaction (PCR) products digested with Stu I enzyme. RESULTS: All the prostate cancer and BPH patients, and even the controls, showed the Stu I restriction enzyme site at position 1754 in the AR. CONCLUSIONS: The Stu I polymorphism in the AR is not related to the occurrence of prostate cancer in Koreans. This suggests that the high incidence of the Stu I polymorphism may be from racial differences in the AR gene. (Korean J Urol 2005;46:561-564)