验证俄罗斯中部人口的高血压遗传风险评分

A. Limonova, A. Ershova, A. Kiseleva, V. Kutsenko, V. Ramensky, Yu.V. Vyatkin, E. Sotnikova, A. Zharikova, M. Zaichenoka, M. S. Pokrovskaya, S. Shalnova, A. N. Meshkov, O. Drapkina
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引用次数: 0

摘要

目的在伊万诺沃州的人口样本中验证和评估之前在欧洲样本中创建的 4 种高血压遗传风险评分(GRS)的准确性。为了进行基因分析,在生物库收集的俄罗斯中部样本(n=1682)上使用了有针对性的下一代测序。选择了以前为欧洲人群开发的与高血压相关的四个基因序列进行验证。测定系数和 ROC 曲线下面积被用作回归模型的质量指标。还进行了额外的验证,以包括所有核苷酸序列变异,而不考虑连锁不平衡水平。根据单个 GRS 的系数,使用聚类+阈值(C+T)方法编制了综合 GRS。研究结果表明,以前开发的基因序列用于俄罗斯中部人群时,其预测价值低于原始研究。解释方差的比例为 0.5-0.8%。先前开发的GRS(Evangelou E等人,2018年)显示了最佳预测能力(解释方差比例-2.5%),其中包括最多的核苷酸序列变异(n=852)。结论:在没有初步验证的情况下,不建议在俄罗斯人群中使用在欧洲样本上开发的高血压基因组序列。不建议将不同 GRS 的统计参数(β 系数和 p 值)结合起来创建原始 GRS。
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Validation of genetic risk scores for hypertension in the Central Russian population
Aim. To validate and evaluate the accuracy of 4 genetic risk scores (GRSs) for hypertension (HTN), previously created on European samples, on a population sample of the Ivanovo Oblast.Material and methods. For genetic analysis, targeted next-generation sequencing was used on a sample of the Central Russia (n=1682) based on the biobank collection. Four GRSs associated with HTN, previously developed for the European population, were selected for validation. The coefficient of determination and the area under the ROC curve were used as quality metrics for regression models. Additional validation was carried out to include all nucleotide sequence variants, regardless of linkage disequilibrium level. A combined GRS was compiled based on coefficients from individual GRSs using the clumping + thresholding (C+T) method.Results. The study demonstrated that the predictive value of previously developed GRSs when used for Central Russian population is lower than in the original studies. The proportion of explained variance was 0,5-0,8%. The best predictive ability (proportion of explained variance — 2,5%) was demonstrated using previously developed GRSs (Evangelou E, et al., 2018), which includes the largest number of nucleotide sequence variants (n=852).Conclusion. GRSs for HTN, developed on European samples, is not recommended for Russian population without preliminary validation. To create original GRSs, combining statistical parameters (β-coefficients and p-value) from different GRS is not recommended.
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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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