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Estrogen Receptor beta lpar; ESR2 ) Polymorphisms and Endometrial Cancer (United States).

机译:雌激素受体β ESR2)多态性与子宫内膜癌(美国)。

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Objective : We hypothesized that variations in the ESR2 gene may influence estrogen exposure in the uterus and thus influence endometrial cancer risk. We validated and screened for variants in the ESR2 gene and examined whether they are associated with endometrial cancer risk. Methods : We resequenced the promoter and coding regions of the ESR2 gene in 24 endometrial cancer cases, and genotyped the validated/discovered SNPs and intronic dinucleotide CA repeat in a nested case-control study of endometrial cancer (cases = 222, controls = 666) in the Nurses' Health Study (NHS). We also explored statistical interaction between ESR2 genotypes and body mass index (BMI) or hormone replacement therapy (HRT) use among postmenopausal women and cancer risk. Results : Two SNPs were validated [rs1256049 in exon 5 (allelic frequencies = 98% G, 2% A) and rs1271572 in the promoter region (allelic frequencies = 60% G, 40% T)]. After adjusting for potential confounders, we observed no association between ESR2 gene polymorphisms and endometrial cancer risk [rs1256049 (OR = 1.2; 95%CI: 0.7-2.3), rs1271572 (OR = 0.8; 95%CI: 0.5-1.1) and CA repeat (22 repeat allele versus >/=22 repeat allele, OR = 1.1; 95%CI: 0.7-1.7)]. We also did not observe any significant effect modification of the ESR2 polymorphisms by BMI or HRT use among postmenopausal women. Conclusion : Our results indicate that ESR2 polymorphisms may not be associated with endometrial cancer risk.
机译:目的:我们假设ESR2基因的变异可能影响子宫内的雌激素暴露,从而影响子宫内膜癌的风险。我们验证并筛选了ESR2基因中的变体,并检查了它们是否与子宫内膜癌风险相关。方法:我们对24例子宫内膜癌病例的ESR2基因的启动子和编码区进行了重新测序,并在嵌套的子宫内膜癌病例对照研究中对经验证/发现的SNP和内含二核苷酸CA重复序列进行了基因分型(病例= 222,对照组= 666)。在护士健康研究(NHS)中。我们还探讨了绝经后女性中ESR2基因型与体重指数(BMI)或激素替代疗法(HRT)使用之间的统计相互作用。结果:验证了两个SNPs [外显子5中的rs1256049(等位基因频率= 98%G,2%A)和启动子区域中的rs1271572(等位基因频率= 60%G,40%T)。在调整了潜在的混杂因素后,我们观察到ESR2基因多态性与子宫内膜癌风险之间没有关联[rs1256049(OR = 1.2; 95%CI:0.7-2.3),rs1271572(OR = 0.8; 95%CI:0.5-1.1)和CA重复(22个重复等位基因与> / = 22个重复等位基因,OR = 1.1; 95%CI:0.7-1.7)]。我们也没有观察到绝经后女性通过BMI或HRT使用对ESR2多态性的任何显着影响。结论:我们的结果表明ESR2基因多态性可能与子宫内膜癌风险无关。

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