Transferability of genetic risk scores in African populations.
Transferability of genetic risk scores in African populations.
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DOI：
10.1038/s41591-022-01835-x
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发表时间：
2022-06
期刊：
影响因子：
82.9
通讯作者：
Fatumo, Segun
中科院分区：
文献类型：
--
作者：
Kamiza, Abram B.;Toure, Sounkou M.;Vujkovic, Marijana;Machipisa, Tafadzwa;Soremekun, Opeyemi S.;Kintu, Christopher;Corpas, Manuel;Pirie, Fraser;Young, Elizabeth;Gill, Dipender;Sandhu, Manjinder S.;Kaleebu, Pontiano;Nyirenda, Moffat;Motala, Ayesha A.;Chikowore, Tinashe;Fatumo, Segun
遗传风险评分（GRS）来自欧洲血统的数据在不同的人群中的可转移性差是一个令人担忧的原因。我们着手评估是否GRS来自非洲裔美国人的个人和多血统数据的数据表现更好，在撒哈拉以南非洲（SSA）相比，欧洲血统的分数。使用百万退伍军人计划（MVP）的汇总统计数据，我们表明，GRS来自非裔美国人的数据增强多基因预测的脂质性状在SSA相比，欧洲和多血统的分数。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），R2 = 8.14%）和乌干达队列（LDL-C，R2 = 0.026%）之间的SSA内差异很大。我们推测，这些人群之间的遗传和环境因素的差异可能会导致差的SSA内的GRSs的可转移性。需要做出更多努力来优化非洲的多基因预测。一项新的研究表明，来自非洲裔美国人个体数据的脂质性状多基因评分在南非祖鲁人队列中具有很高的预测价值，但在乌干达队列中预测效果较差，进一步强调了改善非洲血统人群多基因预测的必要性。
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. A new study reveals that polygenic scores for lipid traits derived from data of African American individuals have high predictive value in a South African Zulu cohort but are poor predictors in a cohort from Uganda, further highlighting the need to improve polygenic predictions in populations of African ancestries.
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影响因子：
2.1
作者：
Márquez-Luna C;Loh PR;South Asian Type 2 Diabetes (SAT2D) Consortium;SIGMA Type 2 Diabetes Consortium;Price AL
通讯作者：
Price AL
与人类血液低密度脂蛋白胆固醇、高密度脂蛋白胆固醇或甘油三酯相关的六个新位点。
影响因子：
30.8
作者：
Kathiresan, Sekar;Melander, Olle;Guiducci, Candace;Surti, Aarti;Burtt, Noel P.;Rieder, Mark J.;Cooper, Gregory M.;Roos, Charlotta;Voight, Benjamin F.;Havulinna, Aki S.;Wahlstrand, Bjorn;Hedner, Thomas;Corella, Dolores;Tai, E. Shyong;Ordovas, Jose M.;Berglund, Goran;Vartiainen, Erkki;Jousilahti, Pekka;Hedblad, Bo;Taskinen, Marja-Riitta;Newton-Cheh, Christopher;Salomaa, Veikko;Peltonen, Leena;Groop, Leif;Altshuler, David M.;Orho-Melander, Marju
通讯作者：
Orho-Melander, Marju
影响因子：
30.8
作者：
Willer, Cristen J.;Sanna, Serena;Abecasis, Goncalo R.
通讯作者：
Abecasis, Goncalo R.
影响因子：
16.6
作者：
Duncan, L.;Shen, H.;Domingue, B.
通讯作者：
Domingue, B.
影响因子：
64.5
作者：
Gurdasani, Deepti;Carstensen, Tommy;Sandhu, Manj S.
通讯作者：
Sandhu, Manj S.