雄激素受体基因多态性与雄激素代谢紊乱疾病的相关性

雄激素受体（AR）基因上的2个三核苷酸多态性重复位点（CAG）n及（GGN）n的片段长度多态性的争议一直很多，多数研究显示，这2个位点的多态性与某些雄激素代谢紊乱相关的病理状态有关，但不同种族人群的研究结果差异也较大。介绍AR结构及功能、AR基因组学、AR基因多态性与某些疾病的相关性，如前列腺癌、男性不育、多囊卵巢综合征，这些疾病中的AR基因多态性与雄激素代谢紊乱相关。

Correlation Between AR Gene Polymorphism and Disorders of Androgen Metabolism

Androgen receptor （AR） gene has two trinucleotide repeats （CAG and GGN） length polymorphisms，as well as many point mutations，which are associated with a number of diseases resulted from disorders of androgen metabolism，although there are many contradictory findings at the same time. Further，studies on different populations could have different results. In this review，the structure and function of AR，and its genomics，was summarized. Then the relationship between the polymorphic variations in AR gene and some diseases resulted from disorders of androgen metabolism was discussed，including prostate cancer，male infertility，polycystic ovary syndrome and so on.