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


CONCLUSIONS
We found that intronic variation in ESR1 was associated with endometrial cancer risk.
Wedrén
Sara
S
Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden. sara.wedren@ki.se
Lovmar
Lovisa
L
Humphreys
Keith
K
Magnusson
Cecilia
C
Melhus
Håkan
H
Syvänen
Ann-Christine
AC
Kindmark
Andreas
A
Landegren
Ulf
U
Fermér
Maria Lagerström
ML
Stiger
Fredrik
F
Persson
Ingemar
I
Baron
John A
JA
Weiderpass
Elisabete
E
D000368:Aged; D018269:Carcinoma, Endometrioid / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D016889:Endometrial Neoplasms / Q000235:genetics* / Q000473:pathology; D047628:Estrogen Receptor alpha / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns / Q000235:genetics; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha