title: Genetic variation in ESR2 and estrogen receptor-beta expression in lung tumors.
abstract: OBJECTIVE
  To investigate the association between inherited variation in the estrogen receptor beta (ERβ) gene (ESR2) and ERβ lung tumor expression, a phenotype that possibly affects survival differently in men and women.
  
  
  METHODS
  We genotyped 135 lung cancer patients for 22 ESR2 single nucleotide polymorphisms (SNPs) and measured nuclear and cytoplasmic ERβ expression by immunohistochemistry (IHC) in their primary lung tumor. Distributing Allred ERβ IHC scores according to ESR2 genotype classified under a dominant genetic model, we used rank sum tests to identify ESR2 SNPs significantly associated (p<0.05) with ERβ expression.
  
  
  RESULTS
  35%, 35%, and 29% of lung tumors showed no/low (Allred<6), intermediate (Allred 6-7), and maximal (Allred 8) cytoplasmic ERβ expression, whereas 13%, 27%, and 60% showed no/low, intermediate, and maximal nuclear ERβ expression. For SNPs rs8021944, rs1256061 and rs10146204, ERβ expression was higher according to the rank sum test in lung tumors from patients with at least one minor allele. For each of these three SNPs, the odds of maximal (Allred 8) relative to no/low (Allred<6) ERβ expression was 3-fold higher in tumors from patients with at least one minor allele than in tumors from patients homozygous for the common allele.
  
  
  CONCLUSIONS
  Inherited variability in ESR2 may determine ERβ lung tumor expression.
authors.affiliation: Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh and University of Pittsburgh Cancer Institute, Pittsburgh, PA, USA.
authors.forename: Ji Young
authors.initials: JY
authors.lastname: Song
authors.forename: Jill M
authors.initials: JM
authors.lastname: Siegfried
authors.forename: Brenda
authors.initials: B
authors.lastname: Diergaarde
authors.forename: Stephanie R
authors.initials: SR
authors.lastname: Land
authors.forename: Robert
authors.initials: R
authors.lastname: Bowser
authors.forename: Laura P
authors.initials: LP
authors.lastname: Stabile
authors.forename: Sanja
authors.initials: S
authors.lastname: Dacic
authors.forename: Rajiv
authors.initials: R
authors.lastname: Dhir
authors.forename: Tomoko
authors.initials: T
authors.lastname: Nukui
authors.forename: Marjorie
authors.initials: M
authors.lastname: Romkes
authors.forename: Joel L
authors.initials: JL
authors.lastname: Weissfeld
mesh_terms: D000368:Aged; D000483:Alleles; D002467:Cell Nucleus / Q000235:genetics; D003593:Cytoplasm / Q000235:genetics; D047629:Estrogen Receptor beta / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D047629:Estrogen Receptor beta