cardiovascularКардиоваскулярная терапия и профилактикаCardiovascular Therapy and Prevention1728-88002619-0125«SILICEA-POLIGRAF» LLC10.15829/1728-8800-2021-3045cardiovascular-3045Research ArticleБИОБАНКИРОВАНИЕBIOBANKINGИспользование данных биобанков в изучении генетической архитектуры остеопороза и разработке шкал генетического рискаBiobank data for studying the genetic architecture of osteoporosis and developing genetic risk scoreshttps://orcid.org/0000-0002-8395-4146СотниковаЕ. А.SotnikovaE. A.

Младший научный сотрудник лаборатории молекулярной генетики.

Москва. Тел.: +7 (985) 452-09-69

Junior Researcher

Moscow

sotnikova.evgeniya@gmail.comhttps://orcid.org/0000-0003-4765-8021КиселеваА. В.KiselevaA. V.

Кандидат биологических наук, старший научный сотрудник лаборатории молекулярной генетики.

Москва

PhD, Senior Researcher.

Moscow

sanyutabe@gmail.comhttps://orcid.org/0000-0001-5989-6233МешковА. Н.MeshkovA. N.

Кандидат медицинских наук, руководитель лаборатории молекулярной генетики, доцент кафедры общей и медицинской генетики медико-биологического факультета.

Москва

PhD, Head of the Laboratory of Molecular Genetics,  assistant professor.

Moscow

meshkov@lipidclinic.ruhttps://orcid.org/0000-0001-7989-0760ЕршоваА. И.ErshovaA. I.

Кандидат медицинских наук, руководитель лаборатории клиномики.

Москва

PhD, Head of Clinomics Laboratory.

Moscow

alersh@mail.ruhttps://orcid.org/0000-0002-2812-959XИвановаА. А.IvanovaA. A.

Ординатор.

Москва

Resident Physician.

Moscow

annaivanova12121@yandex.ruhttps://orcid.org/0000-0002-8164-8946КолчинаМ. А.KolchinaM. A.

Младший научный сотрудник отдела профилактики остеопороза.

Москва

Junior Researcher.

Moscow

MKolchina@gnicpm.ruhttps://orcid.org/0000-0001-9844-3122КуценкоВ. А.KutsenkoV. A.

Младший научный сотрудник лаборатории биостатистики, аспирант кафедры теории вероятностей механико-математического факультета.

Москва

https://orcid.org/0000-0002-1763-0725СкрипниковаИ. А.SkripnikovaI. A.

Доктор медицинских наук, профессор, член-корр. РАН, директор.

Москва

Dr. Med. Sci., Head of Osteoporosis Prevention Department

ISkripnikova@gnicpm.ruhttps://orcid.org/0000-0002-4453-8430ДрапкинаО. М.DrapkinaO. M.

Доктор медицинских наук, руководитель отдела профилактики остеопороза.

Москва

Dr. Med. Sci., professor, RAS corresponding member, Director

ODrapkina@gnicpm.ruФГБУ Национальный медицинский исследовательский центр терапии и профилактической медицины Минздрава РоссииNational Research Center for Therapy and Preventive MedicineФГБУ Национальный медицинский исследовательский центр терапии и профилактической медицины Минздрава России; ФГАОУ ВО Российский национальный исследовательский медицинский университет им. Н. И. Пирогова Минздрава РоссииNational Medical Research Center for Therapy and Preventive Medicine; Russian National Research Medical UniversityФГБУ Национальный медицинский исследовательский центр терапии и профилактической медицины Минздрава России; ФГБОУ ВО Московский государственный университет им. М.В. ЛомоносоваNational Medical Research Center for Therapy and Preventive Medicine; Lomonosov Moscow State UniversityФГБУ Национальный медицинский исследовательский центр терапии и профилактической медицины Минздрава РоссииNational Medical Research Center for Therapy and Preventive Medicine20210801202220830453045Copyright © Сотникова Е.А., Киселева А.В., Мешков А.Н., Ершова А.И., Иванова А.А., Колчина М.А., Куценко В.А., Скрипникова И.А., Драпкина О.М., 20222022Сотникова Е.А., Киселева А.В., Мешков А.Н., Ершова А.И., Иванова А.А., Колчина М.А., Куценко В.А., Скрипникова И.А., Драпкина О.М.Sotnikova E.A., Kiseleva A.V., Meshkov A.N., Ershova A.I., Ivanova A.A., Kolchina M.A., Kutsenko V.A., Skripnikova I.A., Drapkina O.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://cardiovascular.elpub.ru/jour/article/view/3045

Остеопороз — хроническое системное заболевание скелета, характеризующееся снижением костной массы и нарушением костной микроархитектуры, что может приводить к уменьшению прочности костей и повышению риска переломов при незначительной травме. Показатель, на основе которого устанавливается диагноз остеопороза — минеральная плотность кости (МПК), обладает высокой наследуемостью, составляющей по разным данным от 50 до 85%. Как и в случае с другими комплексными признаками, наиболее распространенный подход к поиску генетических вариантов, влияющих на МПК, — это полногеномный поиск ассоциаций. Чем ниже величина эффекта или частота варианта, тем больший размер выборки требуется для достижения убедительной статистической поддержки выявленной ассоциации. Исследования, включающие сотни тысяч участников, на основе выборок и данных биобанков позволяют выявить наибольшее число вариантов, ассоциированных с МПК. Кроме того, данные биобанков используются при разработке шкал генетического риска переломов и развития остеопороза, применение которых возможно в сочетании с существующими прогностическими алгоритмами и независимо от них. Цель обзора — представить наиболее значимые публикации по изучению генетики остеопороза, в т.ч. на основе данных биобанков, включающие исследования по полногеномному поиску ассоциаций, а также работы по оценке шкал генетического риска и анализу вклада редких вариантов.

Osteoporosis is a chronic systemic disease of the skeleton, characterized by a decrease in bone mass and an impairment of bone microarchitecture, which can lead to a decrease in bone strength and an increase in the risk of minor trauma fractures. Osteoporosis is diagnosed on the basis of bone mineral density (BMD). BMD is characterized by high heritability that ranges according to various sources from 50 to 85%. As in the case of other complex traits, the most common approach to searching for genetic variants that affect BMD is a genome-wide association study. The lower effect size or frequency of a variant is, the larger the sample size is required to achieve statistically significant data on associations. Therefore, the studies involving hundreds of thousands of participants based on biobank data can identify the largest number of variants associated with BMD. In addition, biobank data are used in the development of genetic risk scores for osteoporosis that can be used both in combination with existing prognosis algorithms and independently of them. The aim of this review was to present the most significant studies of osteoporosis genetics, including those based on biobank data and genome-wide association studies, as well as studies on the genetic risk scores and the contribution of rare variants.

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