González-Zuloeta Ladd A M, Vásquez A Arias, Rivadeneira F, Siemes C, Hofman A, Stricker B H Ch, Pols H A P, Uitterlinden A G, van Duijn C M
Department of Epidemiology & Biostatistics, Erasmus MC, P.O. Box 2040, Rotterdam, 3000 CA, The Netherlands.
Breast Cancer Res Treat. 2008 Feb;107(3):415-9. doi: 10.1007/s10549-007-9562-3. Epub 2007 Apr 24.
The estrogen receptor alpha (ESR1) is a mediator of estrogen response in the breast. The most studied variants in this gene are the PvuII and XbaI polymorphisms, which have been associated to lower sensitivity to estrogen. We evaluated whether these polymorphisms were associated with breast cancer risk by means of an association study in a population of Caucasian postmenopausal women from the Rotterdam study and a meta-analysis of published data.
The PvuII and XbaI polymorphisms were genotyped in 3,893 women participants of the Rotterdam Study. Baseline information was obtained through a questionnaire. We conducted logistic regression analyses to assess the risk of breast cancer by each of the ESR1 genotypes. Meta-analyses of all publications on these relations were done by retrieving literature from Pubmed and by further checking the reference lists of the articles obtained.
There were 38 women with previously diagnosed breast cancer. During follow-up, 152 were additionally diagnosed. The logistic regression analyses showed no difference in risk for postmenopausal breast cancer in carriers of the PvuII or XbaI genotypes neither in overall, incident or prevalent cases. No further evidence of a role of these variants was found in the meta-analysis.
Our results suggest that the ESR1 polymorphisms do not play a role in breast cancer risk in Caucasian postmenopausal women.
雌激素受体α（ESR1）是乳腺中雌激素反应的介质。该基因中研究最多的变体是PvuII和XbaI多态性，它们与雌激素敏感性降低有关。我们通过对来自鹿特丹研究的白种人绝经后女性群体进行关联研究以及对已发表数据进行荟萃分析，评估这些多态性是否与乳腺癌风险相关。
对鹿特丹研究的3893名女性参与者进行PvuII和XbaI多态性基因分型。通过问卷调查获取基线信息。我们进行逻辑回归分析，以评估每种ESR1基因型患乳腺癌的风险。通过从PubMed检索文献并进一步检查所获文章的参考文献列表，对所有关于这些关系的出版物进行荟萃分析。
有38名女性先前被诊断患有乳腺癌。在随访期间，又有152名被诊断出患有乳腺癌。逻辑回归分析显示，无论是总体病例、新发病例还是现患病例，PvuII或XbaI基因型携带者绝经后乳腺癌的风险均无差异。在荟萃分析中未发现这些变体起作用的进一步证据。
我们的结果表明，ESR1多态性在白种人绝经后女性的乳腺癌风险中不起作用。
