Albert E A, Kondratieva O A, Baranova E E, Sagaydak O V, Belenikin M S, Zobkova G Y, Kuznetsova E S, Deviatkin A A, Zhurov A A, Karpulevich E A, Volchkov P Y, Vorontsova M V
National Medical Research Center for Endocrinology, Moscow, Russia.
Life Sciences Research Center, Moscow Institute of Physics and Technology, Dolgoprudniy, Russia.
Front Genet. 2023 Jan 16;14:1086709. doi: 10.3389/fgene.2023.1086709. eCollection 2023.
Genetic data plays an increasingly important role in modern medicine. Decrease in the cost of sequencing with subsequent increase in imputation accuracy, and the accumulation of large amounts of high-quality genetic data enable the creation of polygenic risk scores (PRSs) to perform genotype-phenotype associations. The accuracy of phenotype prediction primarily depends on the overall trait heritability, Genome-wide association studies cohort size, and the similarity of genetic background between the base and the target cohort. Here we utilized 8,664 high coverage genomic samples collected across Russia by "Evogen", a Russian biomedical company, to evaluate the predictive power of PRSs based on summary statistics established on cohorts of European ancestry for basic phenotypic traits, namely height and BMI. We have demonstrated that the PRSs calculated for selected traits in three distinct Russian populations, recapitulate the predictive power from the original studies. This is evidence that GWAS summary statistics calculated on cohorts of European ancestry are transferable onto at least some ethnic groups in Russia.
遗传数据在现代医学中发挥着越来越重要的作用。测序成本的降低以及随之而来的归因准确性的提高,加上大量高质量遗传数据的积累,使得创建多基因风险评分(PRS)以进行基因型-表型关联成为可能。表型预测的准确性主要取决于总体性状遗传力、全基因组关联研究队列规模以及基础队列与目标队列之间遗传背景的相似性。在此,我们利用俄罗斯生物医学公司“Evogen”在俄罗斯各地收集的8664个高覆盖基因组样本,基于欧洲血统队列建立的汇总统计数据,评估PRS对身高和BMI等基本表型性状的预测能力。我们已经证明,为三个不同俄罗斯人群的选定性状计算的PRS重现了原始研究中的预测能力。这证明基于欧洲血统队列计算的全基因组关联研究汇总统计数据至少可以应用于俄罗斯的一些族群。