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
{"title":"验证俄罗斯中部人口的高血压遗传风险评分","authors":"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","doi":"10.15829/1728-8800-2023-3801","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":9545,"journal":{"name":"Cardiovascular Therapy and Prevention","volume":"56 11-12","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Validation of genetic risk scores for hypertension in the Central Russian population\",\"authors\":\"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\",\"doi\":\"10.15829/1728-8800-2023-3801\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":9545,\"journal\":{\"name\":\"Cardiovascular Therapy and Prevention\",\"volume\":\"56 11-12\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-02-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cardiovascular Therapy and Prevention\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15829/1728-8800-2023-3801\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Social Sciences\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cardiovascular Therapy and Prevention","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15829/1728-8800-2023-3801","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Social Sciences","Score":null,"Total":0}
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.
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.