雌孕激素受体基因多态性与子宫内膜癌发病风险的关系

Estrogen and progesterone receptor gene polymorphisms releated to the risk of endometrial cancer

子宫内膜癌是一种激素依赖性疾病,雌孕激素及其受体在其发生发展中起作用。基因多态性影响其编码蛋白的结构和功能,构成了雌孕激素受体的个体差异。ERα,ERβ及PR基因的常见多态位点以及这些位点的多态性与子宫内膜癌的发病风险有关。对ER基因多态性的研究表明,10位密码子突变型(C)对子宫内膜癌有保护作用,PvuⅡPP基因性或XbaⅠXX基因型与子宫内膜癌发病风险降低有关,上游短TA重复序列(<19)数量增多与子宫内膜癌发表风险升高有关;对PR基因多态性的研究表明启动子区域的331A与子宫内膜癌发表风险升高有关。

Endometrial cancer is an estrogen-dependent neoplasm. Estrogen, progesterone and their receptors act on its occurrence and development. Gene polymorphisms influence the function and structure of its coding protein and lead to the inter-individual differences. The usual gene polymorphisms of estrogen receptor alpha, beta and progesterone receptor may be releatel to the risk of endometrial cancer. For estrogen gene, there is a protective effect of 10C allele against endometrial cancer. The Pvu Ⅱ PP genotype or Xba Ⅰ XX genotype is associated with a decreased risk of endometrial cancer compared with the pp of xx genotype. The increased number of two short TA(<19 repeats) is associated with the increased risk of endometrial cancer. For progesterone gene, there is a promoter region polymorphism-331G/A. 331A is associated with an increased risk of endometrial cancer.