Estrogen receptor alpha gene polymorphism and endometrial cancer risk – a case-control study

doi:10.1186/1471-2407-8-322

BMC Cancer
Volume 8

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Wedrén S
Lovmar L
Humphreys K
Magnusson C
Melhus H
Syvänen AC
Kindmark A
Landegren U
Fermér ML
Stiger F
Persson I
Baron JA
Weiderpass E

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Wedrén S
Lovmar L
Humphreys K
Magnusson C
Melhus H
Syvänen AC
Kindmark A
Landegren U
Fermér ML
Stiger F
Persson I
Baron JA
Weiderpass E
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Research article

Estrogen receptor alpha gene polymorphism and endometrial cancer risk – a case-control study

Sara Wedrén¹ , Lovisa Lovmar² , Keith Humphreys³ , Cecilia Magnusson⁴ , Håkan Melhus² , Ann-Christine Syvänen² , Andreas Kindmark² , Ulf Landegren⁵ , Maria Lagerström Fermér⁶ , Fredrik Stiger² , Ingemar Persson³^,7 , John A Baron⁸ and Elisabete Weiderpass³^,9^,10^,11

¹Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden

²Department of Medical Sciences, Uppsala University, Uppsala, Sweden

³Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden

⁴Department of Public Health, Karolinska Institutet, Stockholm, Sweden

⁵Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden

⁶AstraZeneca R&D, Mölndal, Sweden

⁷Swedish Medical Products Agency, Uppsala, Sweden

⁸Dartmouth Medical School, Hanover, New Hampshire, USA

⁹Department of Etiological Research, Cancer Registry of Norway, Oslo, Norway

¹⁰Department of Community Medicine, University of Tromsö, Norway

¹¹Department of Genetic Epidemiology, Samfundet Folkhälsan, Helsinki, Finland

author email corresponding author email

BMC Cancer 2008, 8:322doi:10.1186/1471-2407-8-322


Published:	6 November 2008

Abstract

Background

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.

Methods

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).

Results

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.

Conclusion

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