Validation of genetic risk scores for type 2 diabetes on a Russian population sample from the biobank of the National Medical Research Center for Therapy and Preventive Medicine

Q3 Social Sciences

Cardiovascular Therapy and Prevention Pub Date : 2023-12-10 DOI:10.15829/1728-8800-20233746

A. Kiseleva, A. G. Soplenkova, V. Kutsenko, E. Sotnikova, Yu.V. Vyatkin, А. A. Zharikova, A. Ershova, M. Zaichenoka, V. Ramensky, O. Skirko, S. Smetnev, O. Kopylova, А. S. Limonova, A. Blokhina, M. S. Pokrovskaya, S. Shalnova, A. N. Meshkov, O. Drapkina

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引用次数: 0

Abstract

Aim. To validate and evaluate the accuracy of 14 genetic risk scores (GRSs) for type 2 diabetes (T2D), created earlier in other countries, using a Russian population sample from the biobank of the National Medical Research Center for Therapy and Preventive Medicine.Material and methods. For genetic analysis, next generation sequencing data was used on a sample from the Russian population (n=1165) based on the biobank collection. The study included 14 GRSs associated with T2D.Results. The study demonstrated that the predictive power of 12 out of 14 GRSs for T2D was replicated in the Russian population. As quality metrics, we used the area under the ROC curve, which for models including only GRS varied from 54,49 to 59,46%, and for models including GRS, sex and age — from 77,56 to 78,75%.Conclusion. For the first time in Russia, a study of 14 T2D GRSs developed on other populations was conducted. Twelve GRSs have been validated and can be used in the future to improve risk prediction and prevention of T2D in Russia.

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在国家治疗和预防医学研究中心生物库的俄罗斯人口样本中验证 2 型糖尿病遗传风险评分

目的利用国家治疗和预防医学研究中心生物库中的俄罗斯人口样本，验证和评估早先在其他国家建立的14个2型糖尿病（T2D）遗传风险评分（GRS）的准确性。基因分析使用了基于生物库收集的俄罗斯人口样本（n=1165）的新一代测序数据。研究包括 14 个与 T2D 相关的 GRS。研究结果表明，14 个基因序列中的 12 个对 T2D 的预测能力在俄罗斯人群中得到了复制。作为质量指标，我们使用了 ROC 曲线下面积，仅包括 GRS 的模型下面积从 54.49% 到 59.46% 不等，包括 GRS、性别和年龄的模型下面积从 77.56% 到 78.75% 不等。俄罗斯首次对针对其他人群开发的 14 种 T2D GRS 进行了研究。12个GRS得到了验证，未来可用于改善俄罗斯T2D的风险预测和预防。

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来源期刊

Cardiovascular Therapy and Prevention Medicine-Cardiology and Cardiovascular Medicine

CiteScore

1.70

自引率

0.00%

发文量

155

审稿时长

6-12 weeks

期刊介绍： The most important objectives of the journal are: the generalization of scientific and practical achievements in the field of cardiology, increasing scientific and practical skills of cardiologists. The scientific concept of publication does the publication of modern achievements in the field of epidemiology, prevention and treatment of cardiovascular diseases, the results of research, national and international clinical trials. For publication in the journal are invited both domestic and foreign scientists and clinicians working in the field of cardiology, as well as doctors of other specialties. The magazine covers various issues in cardiology and related specialties. Each issue is prepared by Executive editor of the issue, a respected specialist in the field of epidemiology, prevention and treatment of cardiovascular diseases. The main focus of the publication — scientific articles on original research, the pharmacotherapy of cardiovascular disease, new diagnostic methods. All members of the group of authors should meet all four criteria of authorship set forth in the ICMJE recommendations: 1) concept and design development or data analysis and interpretation, and 2) manuscript justification or verification of critical intellectual content, and 3) final approval for publication of the manuscript, and 4) consent to be responsible for all aspects of the work, and assume that issues relating to the thoroughness and diligent execution of any part of the study submitted are duly investigated and resolved. Great importance the editors attached to the preparation of scientific papers by groups of authors at a high level, literacy, authors, and their ownership information, availability of research results not only to colleagues in Russia, but also abroad.