Polygenic transcriptome risk scores (PTRS) can improve portability of polygenic risk scores across ancestries.
Genome Biol
; 23(1): 23, 2022 01 13.
Article
em En
| MEDLINE
| ID: mdl-35027082
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Estudo de Associação Genômica Ampla
/
Transcriptoma
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Genome Biol
Ano de publicação:
2022
Tipo de documento:
Article