title: Association of aromatase and estrogen receptor gene polymorphisms with hip fractures.
abstract: Two polymorphisms of the aromatase and estrogen receptor genes appeared to interact to influence the risk of hip fractures in women.
  
  
  BACKGROUND
  Allelic variants of the aromatase gene have been associated with bone mineral density and vertebral fractures. Our objective was to analyze the relationship between two polymorphisms of the aromatase and estrogen receptor genes and hip fractures.
  
  
  METHODS
  We studied 498 women with hip fractures and 356 controls. A C/G polymorphism of the aromatase gene and a T/C polymorphism of the estrogen receptor alpha gene were analyzed using Taqman assays. Aromatase gene expression was determined in 43 femoral neck samples by real-time RT-PCR.
  
  
  RESULTS
  There were no significant differences in the overall distribution of genotypes between the fracture and control groups. However, among women with a TT genotype of the estrogen receptor, the CC aromatase genotype was more frequent in women with fractures than in controls (39 vs. 23%, p = 0.009). Thus, women homozygous for T alleles of estrogen receptor and C alleles of aromatase were at increased risk of fracture (odds ratio 2.0; 95% confidence interval 1.2-3.4). The aromatase polymorphism was associated with RNA levels in bone tissue, which were three times lower in samples with a CC genotype (p = 0.009).
  
  
  CONCLUSIONS
  These common polymorphisms of the aromatase and estrogen receptor genes appear to interact, influencing the risk of hip fractures in women.
authors.affiliation: Department of Internal Medicine, Hospital U.M. Valdecilla, University of Cantabria, 39008 Santander, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Valero
authors.forename: J L
authors.initials: JL
authors.lastname: Pérez-Castrillón
authors.forename: M T
authors.initials: MT
authors.lastname: Zarrabeitia
authors.forename: J L
authors.initials: JL
authors.lastname: Hernández
authors.forename: M A
authors.initials: MA
authors.lastname: Alonso
authors.forename: J
authors.initials: J
authors.lastname: del Pino-Montes
authors.forename: J M
authors.initials: JM
authors.lastname: Olmos
authors.forename: J
authors.initials: J
authors.lastname: González-Macías
authors.forename: J A
authors.initials: JA
authors.lastname: Riancho
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001141:Aromatase / Q000235:genetics* / Q000378:metabolism; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D005272:Femur Neck / Q000201:enzymology; D015870:Gene Expression; D005838:Genotype; D006620:Hip Fractures / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D047628:Estrogen Receptor alpha; D001141:Aromatase