In recent genome-wide association studies (GWAS), several polymorphic loci of the osteoprotegerin (OPG) gene were significantly associated with bone mineral density (BMD) and fractures in men over 50 years of age and postmenopausal women. The objective of our study was to search for associations of rs3102735, rs3134069, rs2073617, rs2073618, rs3102734 and rs7844539 of the OPG gene with the risk of osteoporotic fractures and the level of BMD in individual and comorbid conditions in men and women from the Volga-Ural region of Russia. Material and Methods — 828 women and 496 men of various ethnic groups (Russians, Turks) were examined using two-energy x-ray absorptiometry (DEXA) in the femoral neck and lumbar spine. 1324 deoxyribonucleic acid (DNA) samples were genotyped using a fluorescent endpoint genotyping system, after that we searched for associations of these polymorphic loci with fractures and low BMD levels of various localizations. As a result, there was a significant association of rs3134069 and rs3102734 with fractures in general and in the peripheral parts of the skeleton, as well as rs7844539 and rs3102734 in women and rs2073618 in men with low BMD. Another significant association of rs3102734 and rs2073618 with low bone mineral density in the femoral neck was found in both genders. Conclusion — Polymorphic variants rs3134069, rs3102734, rs7844539 and rs3102734 are potential markers of the risk of osteoporetic fractures and the formation of low BMD in men and women from the Volga-Ural region of Russia.
Osteoporosis is one of multifactorial diseases, it develops from interactions between the genetic component and the environment. However, the universal epigenetic markers of osteoporosis are not yet defined. Finding the risk factors will predict the risk of osteoporosis at the preclinical stage, help define the course and severity of the disease, and develop preventive measures based on them to reduce the risk of fractures. Expanding knowledge in the field of bone biology, especially in the genetics of osteoporosis and osteoimmunology, showed that osteoporosis is a disease that occurs not only due to hormonal or mechanical disorders, but also as a clinically and genetically heterogeneous disease, and there are still unknown pathogenetic links in its structure. Decreases in bone mass and matrix mineralization as well as changes in bone microarchitecture can have different pathogenetic patterns of development and, moreover, there are unknown links of the pathogenesis of osteoporosis. It is possible that DNA methylation is one of these links and a mechanism for epigenetic regulation of gene expression. Evidence exists that this mechanism alongside regulatory miRNAs and post-translational modifications makes a significant contribution to the central processes of bone remodeling; however, the results of various studies vary greatly, and, therefore, there is a need to understand the significance of the accumulated data and to make them consistent. The purpose of this review is to compile and systematize data on the role of DNA methylation in bone metabolism in normal and pathological conditions, in the formation of osteoporosis, and to assess achievements and trends in this field of research and technologies for studying DNA methylation.
Введение. Остеопороз является многофакторным метаболическим заболеванием, при котором возрастает риск перелома костей из-за снижения уровня минеральной плотности костной ткани. Согласно оценкам Международного фонда остеопороза, остеопорозу подвержены около 200 млн человек. Поэтому актуальной представляется разработка клинико-диагностических методов, которые позволили бы эффективно предсказывать риски переломов в различных отделах скелета и, основываясь на данных популяционных исследований, с высокой точностью прогнозировать течение заболевания. Цель: исследование уровней индекса массы тела и минеральной плотности костной ткани у мужчин и женщин с переломами различной локализации. Материал и методы. Было обследовано 828 женщин постменопаузального возраста (61,94 ± 7,98 года) и 496 мужчин старше 50 лет (62,03 ± 10,83 года). Пациентам было проведено измерение минеральной плотности костной ткани (МПКТ) методом двухфазной абсорбционной рентгеновской денситометрии (DEXA) с использованием аппарата QDR 4500A (Hologic, США) в стандартных локализациях и измерен индекс массы тела (ИМТ). Результаты и обсуждение. Были выявлены ассоциации ИМТ с переломами периферических костей, МПКТ поясничных позвонков с переломами периферических костей и позвоночника, МПКТ шейки бедра с переломами данной локализации у женщин. У мужчин выявлены ассоциации ИМТ, МПКТ поясничного отдела позвоночника с переломами всех локализаций и МПКТ шейки бедренной кости с переломами позвоночника и сочетанными переломами. Заключение. У женщин снижение МПКТ шейки бедренной кости повышает риск переломов в целом, МПКТ поясничного отдела позвоночника -только переломов данной локализации. У мужчин снижение МПКТ как поясничного отдела позвоночника, так и шейки бедренной кости повышает риск переломов различной локализации. Снижение ИМТ повышает риск переломов в целом как у мужчин, так и у женщин.
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