Estrogen Receptor Alpha Gene Polymorphism and Endometrial Cancer Risk
Author Information
Author(s): Sara Wedrén, Lovisa Lovmar, Keith Humphreys, Cecilia Magnusson, Håkan Melhus, Ann-Christine Syvänen, Andreas Kindmark, Ulf Landegren, Maria Lagerström Fermér, Fredrik Stiger, Ingemar Persson, John A Baron, Elisabete Weiderpass
Primary Institution: Karolinska Institutet, Stockholm, Sweden
Hypothesis
Is polymorphic variation in the estrogen receptor alpha gene (ESR1) associated with endometrial cancer risk?
Conclusion
Intronic variation in ESR1 was associated with endometrial cancer risk.
Supporting Evidence
- The association with rs9340799 was the strongest, showing a significant decrease in risk for endometrial cancer.
- Genotype frequencies among controls were in accordance with Hardy-Weinberg equilibrium.
- Participation rates were 88% for cases and 76% for controls.
Takeaway
This study found that certain genetic variations in a gene related to estrogen can affect the risk of developing endometrial cancer.
Methodology
The study involved genotyping five markers in ESR1 among 702 cases with invasive endometrial cancer and 1563 controls using logistic regression models.
Potential Biases
Potential selection bias due to differences in participation rates between cases and controls.
Limitations
The study may be affected by selection bias as non-participating cases had more advanced disease.
Participant Demographics
Women aged 50 to 74 years residing in Sweden.
Statistical Information
P-Value
p<0.0001 for rs2234670
Confidence Interval
CI 0.60–0.93 for heterozygous and CI 0.37–0.77 for homozygous rare for rs9340799
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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