Department of Obstetrics and Gynecology, University Medical Center Regensburg, 93053, Regensburg, Germany,
Arch Gynecol Obstet. 2014 Mar;289(3):631-5. doi: 10.1007/s00404-013-3012-8. Epub 2013 Aug 24.
The development of endometrial cancer is known to be affected by estrogens. Thus, genetic variations like single nucleotide polymorphisms (SNPs) in genes involved in estrogen biosynthesis, metabolism, and signal transduction might affect risk for endometrial cancer. In this study, we tested the hypothesis that polymorphisms in the promoter of ESR2 gene may be associated with susceptibility to this disease.
We compared the frequency of three SNPs in the promoter region of ESR2 gene (rs2987983, rs3020450, and rs3020449) in 135 women with endometrial cancer and 135 healthy women serving as controls by means of allele-specific tetra-primer PCR.
Regarding allele frequency, allele positivity or genotype frequencies of these SNPs we did not observe any significant difference between healthy women and women with endometrial cancer.
Our data clearly suggest that the tested SNPs in the promotor region of human ESR2 gene are not associated with the development of endometrial cancer.
子宫内膜癌的发展被认为受到雌激素的影响。因此，参与雌激素生物合成、代谢和信号转导的基因中的单核苷酸多态性（SNP）等遗传变异可能会影响子宫内膜癌的风险。在这项研究中，我们检验了 ESR2 基因启动子中的多态性与该疾病易感性相关的假设。
我们通过等位基因特异性四引物 PCR 比较了 135 例子宫内膜癌患者和 135 例健康对照女性 ESR2 基因启动子区域中三个 SNP（rs2987983、rs3020450 和 rs3020449）的频率。
关于等位基因频率、等位基因阳性率或这些 SNP 的基因型频率，我们在健康女性和子宫内膜癌患者之间未观察到任何显著差异。
我们的数据清楚地表明，人 ESR2 基因启动子区域中测试的 SNP 与子宫内膜癌的发生无关。
