title: Association of estrogen receptor alpha gene polymorphisms and risk of fracture.
abstract: The association between estrogen receptor alpha (ESR1) gene polymorphisms and risk of fracture is still controversial and ambiguous. The objective of this study was to evaluate the effect of PvuII polymorphisms of the ESR1 gene on fracture risk in Chinese patients. A population-based control study of elderly subjects was conducted in 120 fracture patients and 120 controls. The PvuII pp genotype of the ESR1 gene was determined by using a polymerase chain reaction-restriction fragment length polymorphism assay. There was no relationship between ESR1 gene PvuII polymorphism and fracture risk. When stratifying by fracture type, it was found that vertebral fracture cases had a significantly higher frequency of the PvuII pp genotype (odds ratio=2.00, 95% confidence interval=1.03, 3.88; p=0.04) than controls. This study suggested that there was a modest but statistically significant association between the PvuII pp genotype of the ESR1 gene and vertebral fracture in Chinese patients. The molecular mechanism underlying this association needs further study.
authors.affiliation: Department of Orthopedic, The 2nd Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang Province, China.
authors.forename: GuoJun
authors.initials: G
authors.lastname: Wei
authors.forename: Meng
authors.initials: M
authors.lastname: Yao
authors.forename: YanSong
authors.initials: Y
authors.lastname: Wang
authors.forename: CangWei
authors.initials: C
authors.lastname: Zhou
authors.forename: DeYu
authors.initials: D
authors.lastname: Wan
authors.forename: HongWei
authors.initials: H
authors.lastname: Lei
authors.forename: DaMing
authors.initials: D
authors.lastname: Dong
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D015257:DNA-Cytosine Methylases; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D050723:Fractures, Bone / Q000208:ethnology / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha; C047084:DNA modification methylase PvuII; D015257:DNA-Cytosine Methylases