| Title: | Theoretical and empirical quantification of the accuracy of polygenic scores in ancestry divergent populations |
| Journal: | Nature Communications |
| Published: | 31 Jul 2020 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/32737319/ |
| DOI: | https://doi.org/10.1038/s41467-020-17719-y |
| URL: | https://www.nature.com/articles/s41467-020-17719-y.pdf |
| Citations: | 184 (82 in last 2 years) as of 8 Aug 2024 |
Publication 3673
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Abstract
Polygenic scores (PGS) have been widely used to predict disease risk using variants identified from genome-wide association studies (GWAS). To date, most GWAS have been conducted in populations of European ancestry, which limits the use of GWAS-derived PGS in non-European ancestry populations. Here, we derive a theoretical model of the relative accuracy (RA) of PGS across ancestries. We show through extensive simulations that the RA of PGS based on genome-wide significant SNPs can be predicted accurately from modelling linkage disequilibrium (LD), minor allele frequencies (MAF), cross-population correlations of causal SNP effects and heritability. We find that LD and MAF differences between ancestries can explain between 70 and 80% of the loss of RA of European-based PGS in African ancestry for traits like body mass index and type 2 diabetes. Our results suggest that causal variants underlying common genetic variation identified in European ancestry GWAS are mostly shared across continents.6 Authors
- Ying Wang
- Jing Guo
- Guiyan Ni
- Jian Yang
- Peter M. Visscher
- Loic Yengo
1 Application
| Application ID | Title |
|---|---|
| 12505 | Dissecting the genetic basis of relationships between early-life and later-life events |
Enabling scientific discoveries that improve human health