rspНаучно-практическая ревматологияRheumatology Science and Practice1995-44841995-4492IMA-PRESS, LLC10.14412/1995-4484-2008-654rsp-791Research ArticleСтатьиArticlesПолиморфизмы генов эстрогеновых рецепторов α и β при постменопаузальном остеопорозеEstrogenic receptors a and p gene polymorphisms in postmenopausal osteoporosisMaslovaK AMaslovaK A-KrylovM YKrylovM Y-ТоропцоваН. В.ToroptsovaN V-НикитинскаяО. А.NikitinskayaO A-КоротковаТ. А.KorotkovaT A-MyakotkinV AMyakotkinV A-BenevolenskayaL LBenevolenskayaL L-200815062008463№3 (2008)1622Copyright © Maslova K.A., Krylov M.Y., Торопцова Н.В., Никитинская О.А., Короткова Т.А., Myakotkin V.A., Benevolenskaya L.L., 20082008Maslova K.A., Krylov M.Y., Торопцова Н.В., Никитинская О.А., Короткова Т.А., Myakotkin V.A., Benevolenskaya L.L.Maslova K.A., Krylov M.Y., Toroptsova N.V., Nikitinskaya O.A., Korotkova T.A., Myakotkin V.A., Benevolenskaya L.L.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://rsp.mediar-press.net/rsp/article/view/791

Введение. Эстрогены играют важнейшую роль в поддержании костной массы, воздействуя на костную ткань посредством своих рецепторов. Была показана ассоциация полиморфизмов генов эстрогеновых рецепторов (ЕЯ) с минеральной плотностью костной ткани (МПКТ), маркерами костного ремоделирования и переломами костей. Цель. Изучить частотное распределение полиморфизмов генов ERa и ERf>, а также их влияние на МПКТ в группах здоровых женщин в постменопаузальном периоде и имеющих остеопороз (ОП). Материал и методы. 200 жительниц Москвы и Московской области, разделенные на две группы по показателям МПКТ согласно критериям ВОЗ: группа ОП и группа здорового контроля. Результаты. Обнаружено накопление гомозиготного генотипа РР в группе ОП, генотипа xxppRR в группе ОП, а также генотипа xxPpRR в группе здорового контроля. Относительный риск заболеть ОП для носителей генотипа xxppRR составил 3,7. Обнаружена тенденция к повышению средних значений МПКТ всех отделов скелета у носителей генотипа хх (полиморфизм Xbal гена ERa) в группе ОП. Заключение. Обнаруженные различия частотного распределения генотипов, а также их сочетаний, между группами ОП и здорового контроля указывают на наличие генотипов риска и протективных генотипов в отношении развития ОП. Подтверждена важная роль генов эстрогеновых рецепторов в патогенезе постменопаузального ОП и возможность использования этих генетических маркеров для оценки риска его развития в российской популяции.

Objective. To assess frequency distribution of estrogenic receptor (ER)a and ERfl gene polymorphisms and their influence on bone mineral density (BMD) in groups of postmenopausal women with and without osteoporosis (OP). Material and methods. 200 residents of Moscow and Moscow region were divided into two groups considering BMD values according to WHO criteria; OP group and healthy control group Results. Differences of genotype and their combinations frequency distribution between OP and control groups show presence OP risk and protector genotypes. ER gene important role in pathogenesis of postmenopausal osteoporosis and possibility to use these genetic markers for assessment of risk of OP development in Russian population was confirmed.

постменопаузальный остеопорозгены эстрогеновых рецепторовгенотипы риска и протекцииpostmenopausal osteoporosisestrogen receptor genesrisk and protection genotypesReferences<div><p>German L., Merlotti D., De Paola V. et al. Estrogen receptor gene polymorphisms and the genetics of osteoporosis: a HuGe review. Am. J. Epidemiology, 2005, 161(4), 307-320.</p><p>Kobayashi S., lnoue S., Hosoi T. et al. Association of bone mineral density with polymorphism of the estrogen receptor gene. J. Bone Miner. Res., 1996, 11, 306-311.</p><p>Han K.O., Moon LG., Kang Y.S. etal. Non-association of estrogen receptor genotypes with bone mineral density and estrogen responsiveness to hormone replacement therapy in Korean postmenopausal women. J. Clin. Endocrinol. Metab., 1997, 82, 991-995.</p><p>Miiunuma H., Hosoi Т., Okano H. et al. Estrogen receptor gene polymorphism and bone mineral density at the lumbar spine of pre- and postmenopausal women. Bone, 1997, 21, 379-383.</p><p>Willing М., Sowers М., Aron D. et al. Bone mineral density and its change in white women: estrogen and vitamin D receptor genotypes and their interaction. J. Bone Mineral. Res., 1998, 13, 695-705.</p><p>Gennari L., Becherini L., Mazi L. et al. Vitamin D and estrogen receptor allelic variants in Italian postmenopausal women: Evidence of multiple gene contribution to bone mineral density. J. Clin. Endocrinol. Metab., 1998, 83, 939-944.</p><p>Langdahl B., Carstens М., Stenkjaer L. et al. Polymorphisms of the estrogen receptor gene show different distributions in osteoporotic patients and normal controls. J. Bone Miner. Res., 1997, 12, S255.</p><p>Mahonen A., Heikkinen A., Salmon T. et al. Estrogen receptor gene polymorphism is associated with bone mineral density in perimenopausal Finnish women. J. Bone Miner. Res., 1997, 12, T614.</p><p>loannidisJ., Stavrou I., Trikalinos T. etal. 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, 17(11), 2048-2060.</p><p>Ioannidis J., Ralston S., Bennett S. et at. Differential genetic effects of ESRI gene polymorphisms on osteoporotic outcomes. JAMA, 2004, 3, 292(17), 2105-2114.</p><p>Khosla S., Riggs B. Atkinson E. et al. Relationship of estrogen-receptor genotypes to bone mineral density and rates of bone loss in men. J. Clin. Endocrinol. Metab., 2004, 89, 1808-1816.</p><p>Tsukamoto K., lnoue S., Hosoi T. et al. Isolation and radiation hybrid mapping of dinucleotide repeat polymorphism at the human estrogen receptor beta locus. J. Hum. Genet., 1998, 43, 73-74.</p><p>Arko B., Prezelj J., Коте I R. et al. No major effect of estrogen receptor beta gene Rsal polymorphism on bone mineral density and response to alendronate therapy in postmenopausal osteoporosis. J. Steroid. Biochem. Mol. Biol., 2002, 81, 147-152.</p><p>Efstathiadou Z., Ко и ко и I is G., Stakias N. et al. Correlation of estrogen receptor beta gene polymorphisms with spinal bone mineral density in peri- and postmenopausal Greek women. Maturitas, 2006, 20, 53(4), 380-385.</p><p>Becherini L., Semprini S., Mango R. et al. Estrogen receptor beta gene polymorphism and osteoporotic risk in aged males and females from Italy. Calcif. Tissue Int., 2001, 67, 496.</p><p>KungA.W., Lai B.M., Ng M.Y. etal. T-1213Cpolymorphism of estrogen receptor beta is associated with low bone mineral density and osteoporotic fractures. Bone, 2006, 39(5), 1097-1106.</p></div><br /><div><p>German L., Merlotti D., De Paola V. et al. Estrogen receptor gene polymorphisms and the genetics of osteoporosis: a HuGe review. Am. J. Epidemiology, 2005, 161(4), 307-320.</p><p>Kobayashi S., lnoue S., Hosoi T. et al. Association of bone mineral density with polymorphism of the estrogen receptor gene. J. Bone Miner. Res., 1996, 11, 306-311.</p><p>Han K.O., Moon LG., Kang Y.S. etal. Non-association of estrogen receptor genotypes with bone mineral density and estrogen responsiveness to hormone replacement therapy in Korean postmenopausal women. J. Clin. Endocrinol. Metab., 1997, 82, 991-995.</p><p>Miiunuma H., Hosoi Т., Okano H. et al. Estrogen receptor gene polymorphism and bone mineral density at the lumbar spine of pre- and postmenopausal women. Bone, 1997, 21, 379-383.</p><p>Willing М., Sowers М., Aron D. et al. Bone mineral density and its change in white women: estrogen and vitamin D receptor genotypes and their interaction. J. Bone Mineral. Res., 1998, 13, 695-705.</p><p>Gennari L., Becherini L., Mazi L. et al. Vitamin D and estrogen receptor allelic variants in Italian postmenopausal women: Evidence of multiple gene contribution to bone mineral density. J. Clin. Endocrinol. Metab., 1998, 83, 939-944.</p><p>Langdahl B., Carstens М., Stenkjaer L. et al. Polymorphisms of the estrogen receptor gene show different distributions in osteoporotic patients and normal controls. J. Bone Miner. Res., 1997, 12, S255.</p><p>Mahonen A., Heikkinen A., Salmon T. et al. Estrogen receptor gene polymorphism is associated with bone mineral density in perimenopausal Finnish women. J. Bone Miner. Res., 1997, 12, T614.</p><p>loannidisJ., Stavrou I., Trikalinos T. etal. 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, 17(11), 2048-2060.</p><p>Ioannidis J., Ralston S., Bennett S. et at. Differential genetic effects of ESRI gene polymorphisms on osteoporotic outcomes. JAMA, 2004, 3, 292(17), 2105-2114.</p><p>Khosla S., Riggs B. Atkinson E. et al. Relationship of estrogen-receptor genotypes to bone mineral density and rates of bone loss in men. J. Clin. Endocrinol. Metab., 2004, 89, 1808-1816.</p><p>Tsukamoto K., lnoue S., Hosoi T. et al. Isolation and radiation hybrid mapping of dinucleotide repeat polymorphism at the human estrogen receptor beta locus. J. Hum. Genet., 1998, 43, 73-74.</p><p>Arko B., Prezelj J., Коте I R. et al. No major effect of estrogen receptor beta gene Rsal polymorphism on bone mineral density and response to alendronate therapy in postmenopausal osteoporosis. J. Steroid. Biochem. Mol. Biol., 2002, 81, 147-152.</p><p>Efstathiadou Z., Ко и ко и I is G., Stakias N. et al. Correlation of estrogen receptor beta gene polymorphisms with spinal bone mineral density in peri- and postmenopausal Greek women. Maturitas, 2006, 20, 53(4), 380-385.</p><p>Becherini L., Semprini S., Mango R. et al. Estrogen receptor beta gene polymorphism and osteoporotic risk in aged males and females from Italy. Calcif. Tissue Int., 2001, 67, 496.</p><p>KungA.W., Lai B.M., Ng M.Y. etal. T-1213Cpolymorphism of estrogen receptor beta is associated with low bone mineral density and osteoporotic fractures. Bone, 2006, 39(5), 1097-1106.</p></div><br />

The authors declare that there are no conflicts of interest present.