Polygenic transcriptome risk scores (PTRS) can improve portability of polygenic risk scores across ancestries. Journal Article

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Authors: Liang, Y; Pividori, M; Manichaikul, A; Palmer, AA; Cox, NJ; Wheeler, HE; Im, HK
Article Title: Polygenic transcriptome risk scores (PTRS) can improve portability of polygenic risk scores across ancestries.
Abstract: BACKGROUND: Polygenic risk scores (PRS) are valuable to translate the results of genome-wide association studies (GWAS) into clinical practice. To date, most GWAS have been based on individuals of European-ancestry leading to poor performance in populations of non-European ancestry. RESULTS: We introduce the polygenic transcriptome risk score (PTRS), which is based on predicted transcript levels (rather than SNPs), and explore the portability of PTRS across populations using UK Biobank data. CONCLUSIONS: We show that PTRS has a significantly higher portability (Wilcoxon p=0.013) in the African-descent samples where the loss of performance is most acute with better performance than PRS when used in combination.
Journal Title: Genome biology
Publisher: Unknown  
Date Published: 2022