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

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 intr...

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Detalles Bibliográficos
Autores principales: Liang, Yanyu, Pividori, Milton, Manichaikul, Ani, Palmer, Abraham A., Cox, Nancy J., Wheeler, Heather E., Im, Hae Kyung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8759285/
https://www.ncbi.nlm.nih.gov/pubmed/35027082
http://dx.doi.org/10.1186/s13059-021-02591-w
Descripción
Sumario: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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at (10.1186/s13059-021-02591-w).

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