Rajender Singh, Singh Lalji, Thangaraj Kumarasamy
Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad 500007, India.
Asian J Androl. 2007 Mar;9(2):147-79. doi: 10.1111/j.1745-7262.2007.00250.x.
Androgen receptor (AR) gene has been extensively studied in diverse clinical conditions. In addition to the point mutations, trinucleotide repeat (CAG and GGN) length polymorphisms have been an additional subject of interest and controversy among geneticists. The polymorphic variations in triplet repeats have been associated with a number of disorders, but at the same time contradictory findings have also been reported. Further, studies on the same disorder in different populations have generated different results. Therefore, combined analysis or review of the published studies has been of much value to extract information on the significance of variations in the gene in various clinical conditions. AR genetics has been reviewed extensively but until now review articles have focused on individual clinical categories such as androgen insensitivity, male infertility, prostate cancer, and so on. We have made the first effort to review most the aspects of AR genetics. The impact of androgens in various disorders and polymorphic variations in the AR gene is the main focus of this review. Additionally, the correlations observed in various studies have been discussed in the light of in vitro evidences available for the effect of AR gene variations on the action of androgens.
雄激素受体（AR）基因已在多种临床病症中得到广泛研究。除了点突变外，三核苷酸重复序列（CAG和GGN）长度多态性一直是遗传学家感兴趣且存在争议的另一个话题。三联体重复序列中的多态性变异与多种疾病相关，但同时也有相互矛盾的研究结果报道。此外，针对不同人群中同一疾病的研究也得出了不同的结果。因此，对已发表研究进行综合分析或综述对于提取该基因变异在各种临床病症中的意义的信息具有重要价值。AR遗传学已被广泛综述，但到目前为止，综述文章主要集中在个别临床类别，如雄激素不敏感、男性不育、前列腺癌等。我们首次对AR遗传学的大多数方面进行了综述。雄激素在各种疾病中的作用以及AR基因的多态性变异是本综述的主要重点。此外，还根据现有的体外证据，讨论了各种研究中观察到的AR基因变异对雄激素作用的影响之间的相关性。
