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2000
Volume 21, Issue 2
  • ISSN: 1875-6921
  • E-ISSN: 1875-6913

Abstract

Background

Osteoporosis is a multifactorial disorder where genetic and environmental factors contribute to changes in bone mineral density. Several genetic polymorphisms are associated with low bone mineral density and osteoporosis risk, including estrogen receptor-α and single nucleotide polymorphisms.

Objective

To determine the allele frequencies of these polymorphisms among postmenopausal Jordanian women and to assess their association with low bone mineral density and osteoporosis among studied subjects.

Methods

This cross-sectional study enrolled 450 postmenopausal Jordanian women having dual-energy X-ray absorptiometry scans at the National Center for Diabetes, Endocrinology, and Genetics. The study protocol was approved by this center “Institutional Review Board.” The estrogen receptor-α gene sequence containing and polymorphisms was identified by polymerase chain reaction, followed by restriction fragment length polymorphism.

Results

The wild-type allele frequencies of () and () were 54% and 59%, respectively. The genotype was significantly associated with lower femoral neck T-scores in women who were postmenopausal for more than 10 years ( = 0.023) and was significantly associated with lower lumbar spine ( = 0.033) and femoral neck ( = 0.002) T-scores in women older than 60 years of age. However, there was no association between , , or their haplotypes with osteoporosis or bone mineral density T-score values. The two polymorphisms were in Hardy-Weinberg equilibrium and exhibited strong but incomplete linkage disequilibrium.

Conclusion

The data suggest that polymorphism may render some women more susceptible to osteoporosis than others.

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2025-02-17
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References

  1. SalariN. GhasemiH. MohammadiL. The global prevalence of osteoporosis in the world: A comprehensive systematic review and meta-analysis.J. Orthop. Surg. Res.202116160910.1186/s13018‑021‑02772‑0
    [Google Scholar]
  2. CamachoP.M. PetakS.M. BinkleyN. American association of clinical endocrinologists/American college of endocrinology clinical practice guidelines for the diagnosis and treatment of postmenopausal osteoporosis—2020 update.Endocr. Pract.202026Suppl. 114610.4158/GL‑2020‑0524SUPPL 32427503
    [Google Scholar]
  3. GennariL. BecheriniL. FalchettiA. MasiL. MassartF. BrandiM.L. Genetics of osteoporosis: Role of steroid hormone receptor gene polymorphisms.J. Steroid Biochem. Mol. Biol.200281112410.1016/S0960‑0760(02)00043‑2 12127038
    [Google Scholar]
  4. ShilbayehS. Prevalence of osteoporosis and its reproductive risk factors among Jordanian women: A cross-sectional study.Osteoporos. Int.2003141192994010.1007/s00198‑003‑1458‑4 14530908
    [Google Scholar]
  5. SaadehR. JumaaD. ElsalemL. Osteoporosis among postmenopausal women in Jordan: A national cross-sectional study.Int. J. Environ. Res. Public Health20221914880310.3390/ijerph19148803 35886655
    [Google Scholar]
  6. MassartF. ReginsterJ.Y. BrandiM.L. Genetics of menopause-associated diseases.Maturitas200140210311610.1016/S0378‑5122(01)00283‑3 11716989
    [Google Scholar]
  7. OhlssonC. FarmanH.H. GustafssonK.L. The effects of estradiol are modulated in a tissue-specific manner in mice with inducible inactivation of ERα after sexual maturation.Am. J. Physiol. Endocrinol. Metab.20203185E646E65410.1152/ajpendo.00018.2020 32125882
    [Google Scholar]
  8. SchuitS.C.E. de JongF.H. StolkL. Estrogen receptor alpha gene polymorphisms are associated with estradiol levels in postmenopausal women.Eur. J. Endocrinol.2005153232733410.1530/eje.1.01973 16061840
    [Google Scholar]
  9. van MeursJ.B.J. SchuitS.C.E. WeelA.E.A.M. Association of 5′ estrogen receptor alpha gene polymorphisms with bone mineral density, vertebral bone area and fracture risk.Hum. Mol. Genet.200312141745175410.1093/hmg/ddg176 12837697
    [Google Scholar]
  10. GennariL. MerlottiD. De PaolaV. Estrogen receptor gene polymorphisms and the genetics of osteoporosis: A HuGE review.Am. J. Epidemiol.2005161430732010.1093/aje/kwi055 15692074
    [Google Scholar]
  11. HuW. ShuangF. ZouH.X. YangH.H. Association between estrogen receptor-alpha gene PvuII and XbaI polymorphisms and osteoarthritis risk: A meta-analysis.Int. J. Clin. Exp. Med.20158219561965 25932124
    [Google Scholar]
  12. GreendaleG.A. ChuJ. FerrellR. RandolphJ.F.Jr JohnstonJ.M. SowersM.R. The association of bone mineral density with estrogen receptor gene polymorphisms.Am. J. Med.20061199Suppl. 1S79S8610.1016/j.amjmed.2006.07.011 16949392
    [Google Scholar]
  13. JeediguntaY. Bhoomi ReddyP.R. KollaV.K. Association of estrogen receptor α gene polymorphisms with BMD and their affect on estradiol levels in pre- and postmenopausal women in south Indian population from Andhra Pradesh.Clin. Chim. Acta20104117-859760010.1016/j.cca.2010.01.026 20116372
    [Google Scholar]
  14. KurtO. Yilmaz-AydoganH. UyarM. IsbirT. SeyhanM.F. CanA. Evaluation of ERα and VDR gene polymorphisms in relation to bone mineral density in Turkish postmenopausal women.Mol. Biol. Rep.20123966723673010.1007/s11033‑012‑1496‑0 22311020
    [Google Scholar]
  15. HoA.Y.Y. YeungS.S.C. KungA.W.C. PvuII polymorphisms of the estrogen receptor α and bone mineral density in healthy southern Chinese women.Calcif. Tissue Int.200066640540810.1007/s002230010082 10821874
    [Google Scholar]
  16. ShuJ. LiJ. FuY. Association of ESR1 polymorphism rs2234693 and rs9340799 with postmenopausal osteoporosis in a Chinese population.BMC Musculoskelet. Disord.202021134610.1186/s12891‑020‑03359‑2 32493284
    [Google Scholar]
  17. AlbaghaO.M.E. PetterssonU. StewartA. Association of oestrogen receptor gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone.J. Med. Genet.200542324024610.1136/jmg.2004.023895 15744038
    [Google Scholar]
  18. Rojano-MejíaD. Coral-VázquezR.M. CoronelA. Relation of the estrogen receptor and vitamin D receptor polymorphisms with bone mineral density in postmenopausal Mexican-mestizo women.Gene20145371101410.1016/j.gene.2013.12.054 24389498
    [Google Scholar]
  19. MondockovaV. AdamkovicovaM. LukacovaM. The estrogen receptor 1 gene affects bone mineral density and osteoporosis treatment efficiency in Slovak postmenopausal women.BMC Med. Genet.201819117410.1186/s12881‑018‑0684‑8 30241506
    [Google Scholar]
  20. KobayashiS. InoueS. HosoiT. OuchiY. ShirakiM. OrimoH. Association of bone mineral density with polymorphism of the estrogen receptor gene.J. Bone Miner. Res.199611330631110.1002/jbmr.5650110304 8852941
    [Google Scholar]
  21. BecheriniL. GennariL. MasiL. 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. Genet.20009132043205010.1093/hmg/9.13.2043 10942433
    [Google Scholar]
  22. AkkawiI. ZmerlyH. Osteoporosis: Current Concepts.Joints20186212212710.1055/s‑0038‑1660790 30051110
    [Google Scholar]
  23. LinJ.T. LaneJ.M. Osteoporosis.Clin. Orthop. Relat. Res.200442542512613410.1097/01.blo.0000132404.30139.f2 15292797
    [Google Scholar]
  24. TurnerR.T. RiggsB.L. SpelsbergT.C. Skeletal effects of estrogen.Endocr. Rev.1994153275300 8076582
    [Google Scholar]
  25. AsomaningK. Bertone-JohnsonE.R. NascaP.C. HoovenF. PekowP.S. The association between body mass index and osteoporosis in patients referred for a bone mineral density examination.J. Womens Health (Larchmt.)20061591028103410.1089/jwh.2006.15.1028 17125421
    [Google Scholar]
  26. WardlawG.M. Putting body weight and osteoporosis into perspective.Am. J. Clin. Nutr.1996633Suppl.433S436S10.1093/ajcn/63.3.433 8615336
    [Google Scholar]
  27. SowersM. JannauschM.L. LiangW. WillingM. Estrogen receptor genotypes and their association with the 10-year changes in bone mineral density and osteocalcin concentrations.J. Clin. Endocrinol. Metab.200489273373910.1210/jc.2003‑030691 14764789
    [Google Scholar]
  28. HanK. ChoiJ. MoonI. Non-association of estrogen receptor genotypes with bone mineral density and bone turnover in Korean pre-, peri-, and postmenopausal women.Osteoporos. Int.19999429029510.1007/s001980050150 10550445
    [Google Scholar]
  29. ZhangY.Y. LongJ.R. LiuP.Y. Estrogen receptor α and vitamin D receptor gene polymorphisms and bone mineral density: Association study of healthy pre- and postmenopausal Chinese women.Biochem. Biophys. Res. Commun.2003308477778310.1016/S0006‑291X(03)01479‑7 12927786
    [Google Scholar]
  30. AlbaghaO.M.E. McGuiganF.E.A. ReidD.M. RalstonS.H. Estrogen receptor α gene polymorphisms and bone mineral density: Haplotype analysis in women from the United Kingdom.J. Bone Miner. Res.200116112813410.1359/jbmr.2001.16.1.128 11149476
    [Google Scholar]
  31. PouresmaeiliF. RoohiA. TehraniM.J. Osteoporosis and its association with estrogen receptor-alpha gene polymorphism in a population of Iranian women referring to Loghman Hospital.Int. J. Endocrinol. Metab.20093193199
    [Google Scholar]
  32. AerssensJ. DequekerJ. PeetersJ. BreemansS. BroosP. BoonenS. Polymorphisms of the VDR, ER and COLIA1 genes and osteoporotic hip fracture in elderly postmenopausal women.Osteoporos. Int.200011758359110.1007/s001980070079 11069192
    [Google Scholar]
  33. RapuriP.B. GallagherJ.C. KnezeticJ.A. HaynatzkaV. Estrogen receptor alpha gene polymorphisms are associated with changes in bone remodeling markers and treatment response to estrogen.Maturitas200653437137910.1016/j.maturitas.2005.07.007 16139450
    [Google Scholar]
  34. StavrouI. ZoisC. IoannidisJ.P. TsatsoulisA. Association of polymorphisms of the oestrogen receptoralpha gene with the age of menarche.Hum. Reprod.20021741101110510.1093/humrep/17.4.1101 11925413
    [Google Scholar]
  35. GennariL. BecheriniL. MasiL. Vitamin D and estrogen receptor allelic variants in Italian postmenopausal women: evidence of multiple gene contribution to bone mineral density.J. Clin. Endocrinol. Metab.199883393994410.1210/jcem.83.3.4649 9506753
    [Google Scholar]
  36. XiangD. HeJ. JiangT. The correlation between estrogen receptor gene polymorphism and osteoporosis in Han Chinese women.Eur. Rev. Med. Pharmacol. Sci.2018222380848090 30556843
    [Google Scholar]
  37. IoannidisJ.P.A. StavrouI. TrikalinosT.A. Association of polymorphisms of the estrogen receptor alpha gene with bone mineral density and fracture risk in women: A meta-analysis.J. Bone Miner. Res.200217112048206010.1359/jbmr.2002.17.11.2048 12412813
    [Google Scholar]
  38. WangC.L. TangX.Y. ChenW.Q. SuY.X. ZhangC.X. ChenY.M. Association of estrogen receptor α gene polymorphisms with bone mineral density in Chinese women: A meta-analysis.Osteoporos. Int.200718329530510.1007/s00198‑006‑0239‑2 17089081
    [Google Scholar]
  39. IoannidisJ.P.A. RalstonS.H. BennettS.T. Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes.JAMA2004292172105211410.1001/jama.292.17.2105 15523071
    [Google Scholar]
  40. KhojaS.O. Al-SharifH.A. Association of estrogen receptor alpha gene polymorphisms with bone mineral density in postmenopausal Saudi women.Int J Pharm Res Allied Sci20187133147
    [Google Scholar]
  41. YamadaY. AndoF. NiinoN. OhtaS. ShimokataH. Association of polymorphisms of the estrogen receptor α gene with bone mineral density of the femoral neck in elderly Japanese women.J. Mol. Med. (Berl.)200280745246010.1007/s00109‑002‑0348‑0 12110951
    [Google Scholar]
  42. ShangDP LianHY FuDP WuJ HouSS LuJM Relationship between estrogen receptor 1 gene polymorphisms and postmenopausal osteoporosis of the spine in chinese women. Genet Mol Res 201615 gmr.15028106
    [Google Scholar]
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