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Estrogen receptor alpha gene polymorphism and endometrial cancer risk: a case-control study
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine.
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2008 (English)In: BMC Cancer, ISSN 1471-2407, Vol. 8, 322- p.Article in journal (Refereed) Published
Abstract [en]


Estrogen is an established endometrial carcinogen. One of the most important mediators of estrogenic action is the estrogen receptor alpha. We have investigated whether polymorphic variation in the estrogen receptor alpha gene (ESR1) is associated with endometrial cancer risk.


In 702 cases with invasive endometrial cancer and 1563 controls, we genotyped five markers in ESR1 and used logistic regression models to estimate odds ratios (OR) and 95 percent confidence intervals (CI).


We found an association between rs2234670, rs2234693, as well as rs9340799, markers in strong linkage disequilibrium (LD), and endometrial cancer risk. The association with rs9340799 was the strongest, OR 0.75 (CI 0.60-0.93) for heterozygous and OR 0.53 (CI 0.37-0.77) for homozygous rare compared to those homozygous for the most common allele. Haplotype models did not fit better to the data than single marker models.


We found that intronic variation in ESR1 was associated with endometrial cancer risk.

Place, publisher, year, edition, pages
2008. Vol. 8, 322- p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-101180DOI: 10.1186/1471-2407-8-322ISI: 000262161300001PubMedID: 18990228OAI: oai:DiVA.org:uu-101180DiVA: diva2:212023
Available from: 2009-04-20 Created: 2009-04-20 Last updated: 2012-04-13Bibliographically approved

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