Estrogen receptor alpha gene polymorphism and endometrial cancer risk : a case-control study
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https://hdl.handle.net/10037/2146Date
2008-11-06Type
Journal articleTidsskriftartikkel
Peer reviewed
Author
Wedrén, Sara; Weiderpass, Elisabete; Lovmar, Lovisa; Humphreys, Keith; Magnusson, Cecilia; Melhus, Håkan; Syvänen, Ann-Christine; Kindmark, Andreas; Landegren, Ulf; Fermér, Maria Lagerström; Stiger, Fredrik; Persson, Ingemar; Baron, John AAbstract
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.
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.
Publisher
BioMed CentralCitation
BMC Cancer 2008, 8:322Metadata
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