Search and replication of associations of genome variants with lipid levels in a Russian sample

M. Zaichenoka, A. Ershova, A. Kiseleva, E. Sotnikova, Yu.V. Vyatkin, А. A. Zharikova, M. S. Pokrovskaya, S. Shalnova, V. Ramensky, A. N. Meshkov, O. Drapkina
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Abstract

Aim. To search associations for lipid profile parameters (lowand highdensity lipoprotein cholesterol levels, triglycerides and total cholesterol) in population samples from two Russian regions and make a replication analysis of a previously published genome-wide association study (GWA study, GWAS) for residents of three other Russian regions.Material and methods. The study included representative samples from the Vologda (n=689) and Ivanovo (n=1675) regions collected for the Epidemiology of Cardiovascular Diseases and their Risk Factors in Regions of Russian Federation (ESSE-RF) study. We assessed lipid profile parameters and performed a targeted sequencing. A linear regression model adjusted for sex, age, and statin use was used to assess the associations of genomic variants with lipid profiles. The work replicated the results of a study by Usoltsev D, et al., 2023, carried out on population samples of individuals from St.Petersburg, Orenburg and Samara regions.Results. We identified variants for which associations with lipid parameters had previously been identified in a Russian sample. The proportion of replicated variants was 89% and 92% for the samples from the Vologda and Ivanovo regions, respectively. The directions of effects of all replicated variants in the previously published study (samples from the Orenburg and Samara regions and St. Petersburg) and in both studied samples (samples from the Ivanovo and Vologda regions) coincide.Conclusion. The results of the search for associations with lipid parameters in different Russian samples are consistent with each other.
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寻找并复制俄罗斯样本中基因组变异与血脂水平的关系
研究目的在俄罗斯两个地区的人群样本中寻找血脂谱参数(低密度和高密度脂蛋白胆固醇水平、甘油三酯和总胆固醇)的关联,并对之前发表的针对俄罗斯其他三个地区居民的全基因组关联研究(GWA 研究,GWAS)进行复制分析。研究对象包括为俄罗斯联邦地区心血管疾病及其风险因素流行病学(ESSE-RF)研究收集的沃洛格达州(689 人)和伊万诺沃州(1675 人)的代表性样本。我们评估了血脂谱参数,并进行了靶向测序。采用线性回归模型对性别、年龄和他汀类药物使用情况进行调整,以评估基因组变异与血脂状况的关联。这项工作复制了乌索采夫 D 等人 2023 年对圣彼得堡、奥伦堡和萨马拉地区人口样本的研究结果。我们发现了以前在俄罗斯样本中发现的与血脂参数有关的变异。在沃洛格达州和伊万诺沃州的样本中,重复变异的比例分别为 89% 和 92%。在之前发表的研究(奥伦堡和萨马拉地区以及圣彼得堡的样本)中,以及在两项研究(伊万诺沃和沃洛格达地区的样本)中,所有重复变异体的影响方向都是一致的。在俄罗斯不同样本中寻找与血脂参数相关性的结果是一致的。
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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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