INTRODUCTION: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. METHODS: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. RESULTS: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. CONCLUSION: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.

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简介:子宫内膜癌的发展已知受雌激素的影响。因此,涉及雌激素生物合成,代谢和信号转导的基因中的遗传变异(如单核苷酸多态性(SNP))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可能与这种疾病的易感性有关的假设。
方法:我们通过等位基因特异性四引物PCR比较了135例子宫内膜癌女性和135例健康女性作为对照的ESR2基因启动子区域(rs2987983,rs3020450和rs3020449)中三个SNP的频率。
结果:关于这些SNP的等位基因频率,等位基因阳性或基因型频率,我们没有观察到健康女性和子宫内膜癌女性之间的任何显着差异。
结论:我们的数据清楚地表明,人类ESR2基因启动子区域中受测的SNP与子宫内膜癌的发生无关。

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