Mononen Nina, Schleutker Johanna
Laboratory of Cancer Genetics, Institute of Medical Technology, University of Tampere and Tampere University Hospital, Tampere, Finland.
J Urol. 2009 Apr;181(4):1541-9. doi: 10.1016/j.juro.2008.11.076. Epub 2009 Feb 23.
Prostate cancer is epidemic in Western society and androgens are known to mediate key physiological processes in prostate tissue. Therefore, endogenous androgens have long been considered risk factors for prostate cancer. We reviewed the association of androgen pathway genes and their polymorphic sites, and the risk of prostate cancer in individuals of different ethnic backgrounds.
A PubMed((R)) search was performed using the key words, prostate cancer, and 20 select gene names combined with variant and polymorphism. Relevant articles and references during 1998 to 2008 were reviewed for data on the association between polymorphisms and prostate cancer risk.
Recent data suggested that androgen pathway genes have a role in prostate cancer susceptibility. However, the effects of polymorphisms seem to vary in different patients, populations and ethnic backgrounds. The most studied genetic variants are those of AR, SRD5A2, CYP17A1 and CYP3A loci, and the most recent intriguing data come from SHBG and SULT2A genes, of which relatively few studies have been performed.
The association between androgen pathway gene polymorphisms and prostate cancer risk is complex and characterized by contradictory results. The cause of this conflict in any particular association of genotype and phenotype is difficult to identify and it can be attributable to biological, statistical and technical causes. However, recent developments that reach beyond single gene studies, such as genome scale single nucleotide polymorphism studies and multinational collaborations, are a great prospect for future study and understanding more complex interactions.
前列腺癌在西方社会呈流行态势，已知雄激素介导前列腺组织中的关键生理过程。因此，内源性雄激素长期以来被视为前列腺癌的危险因素。我们综述了雄激素途径基因及其多态性位点与不同种族背景个体患前列腺癌风险之间的关联。
使用关键词“前列腺癌”以及20个选定的基因名称，并结合“变异体”和“多态性”在PubMed数据库中进行检索。对1998年至2008年期间的相关文章及参考文献进行综述，以获取关于多态性与前列腺癌风险关联的数据。
近期数据表明，雄激素途径基因在前列腺癌易感性中起作用。然而，多态性的影响在不同患者、人群和种族背景中似乎有所不同。研究最多的基因变异体是雄激素受体（AR）、5α-还原酶2（SRD5A2）、细胞色素P450 17α-羟化酶（CYP17A1）和细胞色素P450 3A（CYP3A）基因座的变异体，而最新的有趣数据来自性激素结合球蛋白（SHBG）和磺基转移酶2A（SULT2A）基因，对这些基因的研究相对较少。
雄激素途径基因多态性与前列腺癌风险之间的关联较为复杂，结果相互矛盾。在任何特定的基因型与表型关联中，这种冲突的原因难以确定，可能归因于生物学、统计学和技术方面的原因。然而，超越单基因研究的近期进展，如基因组规模的单核苷酸多态性研究和跨国合作，为未来的研究以及理解更复杂的相互作用提供了广阔前景。
