ROLE OF GENETIC FACTORS IN THE GENESIS OF POSTMENOPAUSAL OSTEOPOROSIS


Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

This paper considers the major components of the gene network of osteoporosis. As of now, the conventional study of the risk factors for postmenopausal osteoporosis (PMO) deals with a search for the gene mutations associated with bone mineral density (BMD) and PMO. Papers on the association between VDR, LRP-5, RANK, RANKL, ОPG, ESR1, and ESR2 gene polymorphisms and decreased BMD and fractures are analyzed. The given analysis of the data available in the literature suggests that the complex analysis considering the pathomorphological, pathophysioloical, and phenotypic changes in bone tissue with the allelic features of the genes associated with BMD and PMO, the combined effect of a few polymorphisms, gene-gene interactions, and population peculiarities must be a promising area of a genetic study.

Full Text

Restricted Access

About the authors

E. V BORDAKOVA

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia

Email: 0, (8-916) 460-66-00 E- maihyatri09@mail.ru

A. E DONNIKOV

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia

O. V YAKUSHEVSKAYA

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia

S. V YURENEVA

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia

References

  1. Васильева Т.В., Кочеткова Е.А., Антоненко Ф.Ф. Ассоциация гена коллагена и рецептора витамина D с остеопеническим синдромом при ювенильных артритах у детей // Педиатрия. - 2008. - Т. 87, № 5. -С. 41-44.
  2. Генетический паспорт - основа индивидуальной и предиктивной медицины / Под ред. Баранова В.С. - СПб.: Издательство Н-Л, 2009.
  3. Зазерская И.Е., Асеев М.В., Москаленко М.В. Влияние аллелей генов COL1A1 и VDR3 на скорость потери МПК в постменопаузе // Климактерий. - 2001. - № 3. -С. 26-37.
  4. Лесняк О.М., Беневоленская Л.И. Остеопороз: диагностика, профилактика и лечение: Клинические рекомендации. - М.: ГЭОТАР-Медиа, 2009.
  5. Лесняк О.М. Социально-экономическое бремя остеопороза для Российской Федерации // Тезисы докладов IV Российского конгресса по остеопорозу. - СПб., 2010. - С. 27.
  6. Тагиева А.Н. Постменопаузальный остеопороз: роль генетических факторов и реакция костной ткани на гормональную и негормональную терапию: Дис.. канд. мед. наук. - М., 2005.
  7. Albagha O.M., Pettersson U., Stewart A. Association of oestrogen receptor alpha gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone // J. Med. Genet. - 2005. - Vol. 42. - P. 240-246.
  8. Bandrés E., Pombo I., Gonzalez-Huarriz M. Association between bone mineral density and polymorphisms of the VDR, ERalpha, COL1A1 and CTR genes in Spanish postmenopausal women // J. Endocrinol. Invest. — 2005. -Vol. 28, № 4. - P. 312-321.
  9. Bodine P. V Wnt signaling control of bone cell apoptosis // Cell. Res. - 2008. - Vol. 18, № 2. - P. 248-253.
  10. Boyle W.J., Simonet M.S., Lacey D.L. Osteoclast differentiation and activation // Nature. - 2003. - Vol. 423. - P. 337-342.
  11. Choi J.Y., Shin A., Park S.K. Genetic polymorphisms of OPG, RANK, and ESR1 and bone mineral density in Korean postmenopausal women // Calcif. Tiss. Int. - 2005. - Vol. 77. - P. 152-159.
  12. Delmas Pierre D. Clinical potential of RANKL inhibition for the management of postmenopausal osteoporosis and other metabolic bone diseases // J. Clin. Densitometry: Assessment of Skeletal Health. - 2008. - Vol. 11, № 2. - P. 325-338.
  13. Deng F.Y., Zhao L.J., Pei Y.F. et al. Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians // Osteoporos. Int. - 2010. -Vol. 21, № 4. - P. 579-587.
  14. Dong S.S., Liu X.G., Chen Y. Association analyses of RANKL/RANK/OPG gene polymorphisms with femoral neck compression strength index variation in Caucasians // Calcif. Tiss. Int. - 2009. - Vol. 85. - P. 104-112.
  15. Duncan E.L., Cardon L.R., Sinsheimer J.S. Site and gender specificity of inheritance of bone mineral density // J. Bone Miner. Res. - 2003. - Vol. 18. - P. 1531-1538.
  16. Holick M.F. Vitamin D and health: Evolution, biologic functions and recommended dietary intakes for vitamin D // Clinic. Rev. Bone Miner. Metab. - 2009. - Vol. 7. -Р. 2-19.
  17. Hsu Y.H., Niu T., Terwedow H.A. Variation in genes involved in the RANK/RANKL/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men // Hum. Genet. - 2006. - Vol. 118. - Р. 568-577.
  18. Ioannidis J.P., Stavrou I., Trikalinos T.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. - 2002. - Vol. 17. - P. 2048-2060.
  19. Ioannidis J.P., Ralston S.H., Bennett S.T. Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes // JAMA. - 2004. - Vol. 292. - P. 2105-2114.
  20. Koh J.M., Park B.L., Kim D.J. Identification of novel RANK polymorphisms and their putative association with low BMD among postmenopausal women // Osteoporos. Int. - 2007. -Vol. 18. - P. 323-331.
  21. Lai B.M., Cheung C.L., Luk K.D. Estrogen receptor alpha CA dinucleotide repeat polymorphism is associated with rate of bone loss in perimenopausal women and bone mineral density and risk of osteoporotic fractures in postmenopausal women // Osteoporos. Int. - 2008. - Vol. 19. - P. 571-579.
  22. Lee Y.H., Woo J.H., Choi S.J. Associations between osteoprotegerin polymorphisms and bone mineral density: a meta-analysis // Mol. Biol. Rep. - 2010. - Vol. 37. - Р. 227— 234.
  23. Macdonald H.M., McGuigan F.E., Stewart A. Large-scale population-based study shows no evidence of association between common polymorphism of the VDR gene and BMD in British women // J. Bone Miner. Res. - 2006. - Vol. 21, № 1. - P. 151-162.
  24. Massart F., Marini F., Bianchi G. Age-specific effects of estrogen receptors’ polymorphisms on the bone traits in healthy fertile women: the BONTURNO study // Reprod. Biol. Endocrinol. - 2009. - Vol. 7. - P. 32.
  25. Mencej-Bedrac S., Prezelj J., Kocjan T. The combinations of polymorphisms in vitamin D receptor, osteoprotegerin and tumour necrosis factor superfamily member 11 genes are associated with bone mineral density // J. Mol. Endocrinol. - 2009. - Vol. 42. - P. 239-247.
  26. Mine Durusu Tanriover, Gamse Bora Tatar, Tenzile Deniz Uluturk. Evalution of the effects of vitamin D receptor and estrogen receptor 1 gene polymorphisms on bone mineral density in postmenopausal women // Clin. Rheumatol. - 2010. - Vol. 29. - P. 1285-1293.
  27. Raisz Lawrence G. Pathogenesis of osteoporosis: concepts, conflicts, and prospects // J. Clin. Invest. - 2005. - Vol. 115, № 12. - P. 3318-3325.
  28. Richards J.B., Rivadeneira F., Inouye M. et al.Bone mineral density, osteoporosis, and osteoporotic. fractures: a genome-wide association study // Lancet. - 2008. - Vol. 371, № 9623. - P. 1505-1512.
  29. Rivadeneira F., van Meurs J.B., Kant J. Estrogen receptor beta (ESR2) polymorphisms in interaction with estrogen receptor alpha (ESR1) and insulin-like growth factor I (IGF1) variants influence the risk of fracture in postmenopausal women // J. Bone Miner. Res. - 2006. - Vol. 21. - P. 1443-1456.
  30. Rivadeneira F., Styrkarsdottir U., Estrada K. Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies // Nat. Genet. - 2009. -Vol. 41. - P. 1199-1206.
  31. Styrkarsdottir U., Halldorsson B.V., Gretarsdottir S. Multiple genetic loci for bone mineral density and fractures // N. Engl. J. Med. - 2008. - Vol. 358. - P. 2355-2365.
  32. Tran B.N., Nguyen N.D., Eisman J.A. Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis // BMC Med. Genet. - 2008. - Vol. 9. -P. 55.
  33. van Meurs J.B., Trikalinos T.A., Ralston S.H. Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis // JAMA. - 2008. - Vol. 299. - P. 1277-1290.
  34. Wang C.L., Tang X.Y., Chen W.Q. Association of estrogen receptor alpha gene polymorphisms with bone mineral density in Chinese women: a meta- analysis // Osteoporos. Int. - 2007. - Vol. 18. - P. 295-305.
  35. Wang J.T., Guo Y., Yang T.L. Polymorphisms in the estrogen receptor genes are associated with hip fractures in Chinese // Bone. - 2008. - Vol. 43. - P. 910-914.
  36. Wen-Feng Li, Shu-Xun Hou, Bin Yu. Genetics of osteoporosis: accelerating pace in gene identification and validation // Hum. Genet. - 2010. - Vol. 127. - Р. 249-285.

Supplementary files

Supplementary Files
Action
1. JATS XML

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies