ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМПymj-2426Research ArticleГЕНЕТИКА МУЛЬТИФАКТОРИАЛЬНЫХ ЗАБОЛЕВАНИЙGENETICS OF MULTIFACTORIAL DISEASESРоль полиморфных вариантов гена рецептора эстрогена-α (ESR1) в развитии постменопаузального остеопороза в Волго-Уральском регионе РоссииRole of estrogen receptor-α gene polymorphisms (ESR1) in development of postmenopausal osteoporosis in Volga-Ural region of RussiaХусаиноваР. И.KhusainovaR. I.

Хусаинова Рита Игоревна – к.б.н., с.н.с.

021gen@mail.ruСелезневаЛ. И.SeleznevaL. I.

Селезнева Лиана Ильдусовна – к.м.н., м.н.с.

ФазлыеваЭ. А.FazlyevaE. A.

Фазлыева Эльза Ахметовна – к.м.н., зав.

НурлыгаяновР. З.NurlygayanovR. Z.

Нурлыгаянов Радик Зуфарович – к.м.н., врач-травматолог

НадыршинаД. Д.NadyrshinaD. D.

Надыршина Дина Даяновна – аспирант

ЛеснякО. М.LesnyakO. M.

Лесняк Ольга Михайловна – д.м.н., зав. кафедрой

г. Екатеринбург

ХуснутдиноваЭ. К.KhusnutdinovaE. K.

Хуснутдинова Эльза Камилевна – д.б.н., проф., зав. Отделом геномики

Институт биохимии и генетики Уфимского научного центра РАНRussian FederationЖенская консультация №5Russian FederationГородская больница №21Russian FederationУральская медицинская академияRussian Federation200927102025029699Copyright © Хусаинова Р.И., Селезнева Л.И., Фазлыева Э.А., Нурлыгаянов Р.З., Надыршина Д.Д., Лесняк О.М., Хуснутдинова Э.К., 20252025Хусаинова Р.И., Селезнева Л.И., Фазлыева Э.А., Нурлыгаянов Р.З., Надыршина Д.Д., Лесняк О.М., Хуснутдинова Э.К.Khusainova R.I., Selezneva L.I., Fazlyeva E.A., Nurlygayanov R.Z., Nadyrshina D.D., Lesnyak O.M., Khusnutdinova E.K.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/2426

Проведено изучение c.454-397T>C, c.454-351A>G и (ТА)n полиморфных локусов гена ESR1 у женщин постменопаузального возраста татарской и русской этнической принадлежности из Волго-Уральского региона и поиск ассоциаций полиморфных вариантов гена ESR1 с риском развития переломов, уровнем эстрадиола и минеральной плотности костной ткани. Обнаружена ассоциация генотипа ESR1*G*A полиморфизма c.454-351A>G с пониженным риском развития переломов (OR=0,61; 95%CI 0,46-0,95), а аллеля ESR1*G – с повышенным риском развития остеопороза (OR=1,57; 95%CI 1,06-2,3) у женщин русской этнической принадлежности. Выявлена ассоциация генотипа ESR1*A*A и гаплотипа ESR1*T*A гена ESR1 с повышенным уровнем эстрадиола у женщин татарской этнической принадлежности.

The analysis of c.454-397T>C, c.454-351A>G и (ТА)n polymorphic loci of ESR1 gene in postmenopausal women Tatars and Russians origin from Volga-Ural region and association of the allelic variants and their combination with the risk of fracture development and BMD, estradiol level has been conducted. The association of ESR1*G*A genotype of c.454-351A>G polymorphic locus with the low risk of osteoporotic fractures has been discovered (OR=0,61; 95%CI 0,46-0,95), and allele ESR1*G – with the high risk of osteoporotic fractures (OR=1,57; 95%CI 1,06-2,3) in Russians women. The associations of ESR1*A*A genotype and ESR1*T*A haplotype of ESR1 gene with high level of estradiol has been shown in Tatars women.

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