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Transferability of genetic risk scores in African populations
Nature Medicine ( IF 82.9 ) Pub Date : 2022-06-02 , DOI: 10.1038/s41591-022-01835-x
Abram B Kamiza 1, 2, 3 , Sounkou M Toure 1, 4 , Marijana Vujkovic 5 , Tafadzwa Machipisa 6, 7, 8 , Opeyemi S Soremekun 1 , Christopher Kintu 1 , Manuel Corpas 9, 10, 11 , Fraser Pirie 12 , Elizabeth Young 13 , Dipender Gill 14, 15 , Manjinder S Sandhu 14 , Pontiano Kaleebu 16 , Moffat Nyirenda 16 , Ayesha A Motala 12 , Tinashe Chikowore 3, 17 , Segun Fatumo 1, 16, 18, 19
Affiliation  

The poor transferability of genetic risk scores (GRSs) derived from European ancestry data in diverse populations is a cause of concern. We set out to evaluate whether GRSs derived from data of African American individuals and multiancestry data perform better in sub-Saharan Africa (SSA) compared to European ancestry-derived scores. Using summary statistics from the Million Veteran Program (MVP), we showed that GRSs derived from data of African American individuals enhance polygenic prediction of lipid traits in SSA compared to European and multiancestry scores. However, our GRS prediction varied greatly within SSA between the South African Zulu (low-density lipoprotein cholesterol (LDL-C), R2 = 8.14%) and Ugandan cohorts (LDL-C, R2 = 0.026%). We postulate that differences in the genetic and environmental factors between these population groups might lead to the poor transferability of GRSs within SSA. More effort is required to optimize polygenic prediction in Africa.



中文翻译:

非洲人群遗传风险评分的可转移性

来自不同人群的欧洲血统数据的遗传风险评分 (GRS) 的可转移性差是一个令人担忧的问题。我们着手评估与欧洲血统派生的分数相比,来自非裔美国人个人数据和多血统数据的 GRS 在撒哈拉以南非洲 (SSA) 的表现是否更好。使用来自百万退伍军人计划 (MVP) 的汇总统计数据,我们表明,与欧洲和多血统分数相比,源自非裔美国人个体数据的 GRS 增强了 SSA 脂质性状的多基因预测。然而,我们的 GRS 预测在南非祖鲁人(低密度脂蛋白胆固醇 (LDL-C),R 2  = 8.14%)和乌干达人群(LDL-C,R 2 )之间的 SSA 中差异很大 = 0.026%)。我们假设这些人群之间遗传和环境因素的差异可能导致 GRS 在 SSA 内的可转移性差。需要更多努力来优化非洲的多基因预测。

更新日期:2022-06-02
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