title: Estrogen receptor alpha gene polymorphism and endometrial cancer risk--a case-control study.
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.
  
  
  CONCLUSIONS
  We found that intronic variation in ESR1 was associated with endometrial cancer risk.
authors.affiliation: Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden. sara.wedren@ki.se
authors.forename: Sara
authors.initials: S
authors.lastname: Wedrén
authors.forename: Lovisa
authors.initials: L
authors.lastname: Lovmar
authors.forename: Keith
authors.initials: K
authors.lastname: Humphreys
authors.forename: Cecilia
authors.initials: C
authors.lastname: Magnusson
authors.forename: Håkan
authors.initials: H
authors.lastname: Melhus
authors.forename: Ann-Christine
authors.initials: AC
authors.lastname: Syvänen
authors.forename: Andreas
authors.initials: A
authors.lastname: Kindmark
authors.forename: Ulf
authors.initials: U
authors.lastname: Landegren
authors.forename: Maria Lagerström
authors.initials: ML
authors.lastname: Fermér
authors.forename: Fredrik
authors.initials: F
authors.lastname: Stiger
authors.forename: Ingemar
authors.initials: I
authors.lastname: Persson
authors.forename: John A
authors.initials: JA
authors.lastname: Baron
authors.forename: Elisabete
authors.initials: E
authors.lastname: Weiderpass
mesh_terms: 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
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha