Validation of genetic risk scores for coronary artery disease, developed on European population samples, in Russian population

A. Ershova, A. N. Meshkov, V. Kutsenko, Yu.V. Vyatkin, A. Kiseleva, E. Sotnikova, A. Limonova, E. V. Garbuzova, G. Muromtseva, M. Zaicenoka, A. Zharikova, V. Ramensky, O. А. Belova, S. Rachkova, M. S. Pokrovskaya, S. Shalnova, S. A. Boytsov, O. Drapkina
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Abstract

Aim. To evaluate the information content of genetic risk scores (GRSs) for coronary artery disease (CAD), previously developed on European populations, in representatives of the Russian population.Material and methods. The work involved 1685 people from the ESSE-Ivanovo epidemiological study. CAD was verified in 3,1% of individuals. The coronary composite endpoint was assessed annually during 8-year follow-up. Next generation sequencing was performed using a targeted panel. Logistic regression analysis and area under the ROC curve (AUC) were used. Age, sex, and smoking status were taken into account in the multivariate model.Results. Of the 16 GRSs included in the analysis, only 2 GRSs demonstrated significance in the univariate analysis of association with CAD (highest AUC — 0,577). In a multivariate model, with an increase by 1 standard deviation (SD) for the 6 studied GRSs, a significant association with CAD was obtained — the odds ratio varied in the range of 1,31-1,47. The two GRSs demonstrated significant differences in the incidence of CAD between the groups corresponding to the upper and lower quintiles. Forty-five endpoints were registered. The risk ratio for the end point with an increase in GRS by 1 SD, taking into account cofactors, exceeded statistical significance for the 9 analyzed GRS and was in the range of 1,36-1,54.Conclusion. For the first time in Russia, 16 CAD GRSs, previously developed on European samples, was validated. The results were reproduced only for a few of the studied CAD SGRs.
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在俄罗斯人口中验证根据欧洲人口样本开发的冠状动脉疾病遗传风险分数
目的评估之前针对欧洲人群开发的冠状动脉疾病(CAD)遗传风险评分(GRS)在俄罗斯人群中的信息含量。这项工作涉及ESSE-Ivanovo流行病学研究中的1685人。3.1%的人被证实患有冠心病。在为期 8 年的随访中,每年对冠状动脉综合终点进行一次评估。使用靶向面板进行了新一代测序。采用逻辑回归分析和 ROC 曲线下面积 (AUC)。多变量模型中考虑了年龄、性别和吸烟状况。在纳入分析的 16 个 GRS 中,只有 2 个 GRS 在单变量分析中显示出与 CAD 的显著相关性(最高 AUC - 0,577)。在多变量模型中,当 6 项研究的 GRS 增加 1 个标准差(SD)时,就会发现它们与冠状动脉粥样硬化有显著的关联--几率比在 1,31-1,47 之间变化。两项 GRS 表明,在五分位数较高和较低的组别中,冠状动脉粥样硬化症的发病率存在显著差异。共登记了 45 个终点。在 9 个分析的 GRS 中,GRS 增加 1 SD 的终点风险比超过了统计学意义,在 1,36-1,54 之间。俄罗斯首次验证了之前在欧洲样本中开发的 16 个 CAD GRS。只有少数被研究的 CAD SGRs 的结果是重复的。
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来源期刊
Cardiovascular Therapy and Prevention
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.
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