A meta-analysis was performed to evaluate the effect of oestrogen receptor-α (ESR1) gene PvuII polymorphism on fracture risk. It included published data from relevant studies (up to May 2010) identified from Medline™, Embase™ and Current Contents™. The 13 included studies contained 1279 fracture cases and 6069 controls. The combined results based on these studies showed no relationship between ESR1 gene PvuII polymorphism and fracture risk. No significant difference in genotype distribution was found when stratifying by race. When stratifying by fracture type, it was found that vertebral fracture cases had a significantly higher frequency of the PvuII pp genotype than controls in five studies (552 cases and 2350 controls). This meta-analysis suggests a modest but statistically significant association between the ESR1 PvuII pp genotype and vertebral fracture.
GennariLMerlottiDDe PaolaV: Estrogen receptor gene polymorphisms and the genetics of osteoporosis: A HuGE review. Am J Epidemiol2005; 161: 307–320.
2.
JiGRYaoMSunCY: Association of collagen type I α1 (COLIA1) Sp1 polymorphism with osteoporotic fracture in Caucasian post-menopausal women: a meta-analysis. J Int Med Res2009; 37: 1725–1732.
3.
KjaergaardADEllervikCTybjaerg-HansenA: Estrogen receptor α polymorphism and risk of cardiovascular disease, cancer, and hip fracture: Cross-sectional, cohort, and case– control studies and a meta-analysis. Circulation2007; 115: 861–871.
4.
WangCLTangXYChenWQ: Association of estrogen receptor alpha gene polymorphisms with bone mineral density in Chinese women: A meta-analysis. Osteoporos Int2007; 18: 295–305.
5.
IoannidisJPStavrouITrikalinosTA: Association of polymorphisms of the estrogen receptor α gene with bone mineral density and fracture risk in women: A meta-analysis. J Bone Miner Res2002; 17: 2048–2060.
6.
VandevyverCVanhoofJDeclerckK: Lack of association between estrogen receptor genotypes and bone mineral density, fracture history, or muscle strength in elderly women. J Bone Miner Res1999; 14: 1576–1582.
7.
LangdahlBLLokkeECarstensM: A TA repeat polymorphism in the estrogen receptor gene is associated with osteoporotic fractures but polymorphisms in the first exon and intron are not. J Bone Miner Res2000; 15: 2222–2230.
8.
BecheriniLGennariLMasiL: Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor α gene and their relationship to bone mass variation in postmenopausal Italian women. Hum Mol Genet2000; 9: 2043–2050.
9.
AerssensJDequekerJPeetersJ: Polymorphisms of the VDR, ER and COLIA1 genes and osteoporotic hip fracture in elderly postmenopausal women. Osteoporos Int2000; 11: 583–591.
10.
SalménTHeikkinenAMMahonenA: The protective effect of hormone-replacement therapy on fracture risk is modulated by estrogen receptor α genotype in early postmenopausal women. J Bone Miner Res2000; 15: 2479–2486.
11.
AlbaghaOMMcGuiganFEReidDM: Estrogen receptor α gene polymorphisms and bone mineral density: Haplotype analysis in women from the United Kingdom. J Bone Miner Res2001; 16: 128–134.
12.
EfstathiadouZKranasVIoannidisJP: The Sp1 COLIA1 gene polymorphism, and not vitamin D receptor or estrogen receptor gene polymorphisms, determines bone mineral density in postmenopausal Greek women. Osteoporos Int2001; 12: 326–331.
13.
KobayashiNFujinoTShiroganeT: Estrogen receptor α polymorphism as a genetic marker for bone loss, vertebral fractures and susceptibility to estrogen. Maturitas2002; 41: 193–201.
14.
ColinEMUitterlindenAGMeursJB: Interaction between vitamin D receptor genotype and estrogen receptor α genotype influences vertebral fracture risk. J Clin Endocrinol Metab2003; 88: 3777–3784.
15.
van MeursJBSchuitSCWeelAE: Association of 5′ estrogen receptor alpha gene polymorphisms with bone mineral density, vertebral bone area and fracture risk. Hum Mol Genet2003; 12: 1745–1754.
16.
RobinsJGreenlandSBreslowNE: A general estimator for the variance of the Mantel– Haenszel odds ratio. Am J Epidemiol1986; 124: 719–723.
17.
BeggCBMazumdarM: Operating characteristics of a rank correlation test for publication bias. Biometrics1994; 50: 1088–1101.
18.
EggerMDaveySmith GSchneiderM: Bias in meta-analysis detected by a simple, graphical test. BMJ1997; 315: 629–634.
19.
DuanYTabenskyADeLucaV: The benefit of hormone replacement therapy on bone mass is greater at the vertebral body than posterior processes or proximal femur. Bone1997; 21: 447–451.
20.
KurabayashiTTomitaMMatsushitaH: Association of vitamin D and estrogen receptor gene polymorphism with the effect of hormone replacement therapy on bone mineral density in Japanese women. Am J Obstet Gynecol1999; 180: 1115–1120.
21.
RivadeneiraFvan MeursJBKantJ: Estrogen receptor β (ESR2) polymorphisms in interaction with estrogen receptor α (ESR1) and insulin-like growth factor I (IGF1) variants influence the risk of fracture in postmenopausal women. J Bone Miner Res2006; 21: 1443–1456.
22.
SalménTHeikkinenAMMahonenA: Relation of estrogen receptor-alpha gene polymorphism and hormone replacement therapy to fall risk and muscle strength in early postmenopausal women. Ann Med2002; 34: 64–72.
23.
MitraSDesaiMKhatkhatayMI: Association of estrogen receptor α gene polymorphisms with bone mineral density in postmenopausal Indian women. Mol Genet Metab2006; 87: 80–87.
24.
JakimiukANowickaMBogusiewiczM: Prevalence of estrogen receptor α PvuII and XbaI polymorphism in population of Polish postmenopausal women. Folia Histochem Cytobiol2007; 45: 331–338.
25.
LanyonLArmstrongVOngD: Is estrogen receptor α key to controlling bones' resistance to fracture?J Endocrinol2004; 182: 183–191.
26.
WeiderpassEPerssonIMelhusH: Estrogen receptor alpha gene polymorphisms and endometrial cancer risk. Carcinogenesis2000; 21: 623–627.
27.
SobczukASmolarzBRomanowicz-MakowskaH: Estrogen receptor alpha (ER-alpha) gene polymorphism in patients from the Lodz region of Poland with sporadic endometrial cancer. Eur J Gynaecol Oncol2009; 30: 431–434.
28.
WedrénSLovmarLHumphreysK: Estrogen receptor alpha gene polymorphism and endometrial cancer risk–a case–control study. BMC Cancer2008; 8: 322.
29.
SasakiMTanakaYKaneuchiM: CYP1B1 gene polymorphisms have higher risk for endometrial cancer, and positive correlations with estrogen receptor α and estrogen receptor β expressions. Cancer Res2003; 63: 3913–3918.
30.
IwamotoIFujinoTDouchiT: Association of estrogen receptor alpha and beta3-adrenergic receptor polymorphisms with endometrial cancer. Obstet Gynecol2003; 102: 506–511.
31.
SasakiMTanakaYKaneuchiM: Polymorphisms of estrogen receptor α gene in endometrial cancer. Biochem Biophys Res Commun2002; 297: 558–564.
32.
AnghelARaicaMNaritaD: Estrogen receptor alpha polymorphisms: Correlation with clinicopathological parameters in breast cancer. Neoplasma2010; 57: 306–315.
33.
SobczukAPertyńskiTSmolarzB: The analysis of estrogen receptor alpha (ER-alpha) gene Pvull and Xbal polymorphisms in postmenopausal women with breast cancer. Pol Merkur Lekarski2008; 25: 43–45 [in Polish, English abstract].
34.
ModugnoFZmudaJMPotterD: Association of estrogen receptor α polymorphisms with breast cancer risk in older Caucasian women. Int J Cancer2005; 116: 984–991.
35.
ShinAKangDNishioH: Estrogen receptor alpha gene polymorphisms and breast cancer risk. Breast Cancer Res Treat2003; 80: 127–131.
36.
CaiQShuXOJinF: Genetic polymorphisms in the estrogen receptor α gene and risk of breast cancer: Results from the Shanghai Breast Cancer Study. Cancer Epidemiol Biomarkers Prev2003; 12: 853–859.
37.
LaddAM González-ZuloetaVásquezAARivadeneiraF: Estrogen receptor α polymorphisms and postmenopausal breast cancer risk. Breast Cancer Res Treat2008; 107: 415–419.
38.
GuptaLThakurHSobtiRC: Role of genetic polymorphism of estrogen receptor-alpha gene and risk of prostate cancer in north Indian population. Mol Cell Biochem2010; 335: 255–261.
39.
BergnerCCKrauseFSZugorV: Polymorphisms of human estrogen receptor (ER) gene alpha and beta in prostate cancer PC-EW and PC-OR cell lines. Anticancer Res2007; 27: 2071–2074.
40.
HernándezJBalicIJohnson-PaisTL: Association between an estrogen receptor-gene polymorphism and the risk of prostate cancer in black men. J Urol2006; 175: 523–527.
41.
TanakaYSasakiMKaneuchiM: Polymorphisms of estrogen receptor α in prostate cancer. Mol Carcinog2003; 37: 202–208.
42.
Cancel-TassinGLatilARousseauF: Association study of polymorphisms in the human estrogen receptor alpha gene and prostate cancer risk. Eur Urol2003; 44: 487–490.
43.
LittleJHigginsJPIoannidisJP: Strengthening the reporting of genetic association studies (STREGA): An extension of the STROBE Statement. Hum Genet2009; 125: 131–151.
