Evidence map›Paper›PMID 35027082›Full record

ArticleGenome biology2022

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

Yanyu Liang, Milton Pividori, Ani Manichaikul, Abraham A Palmer, Nancy J Cox, Heather E Wheeler, Hae Kyung Im

Open access · goldAbstract read
In one paragraph

Article in Genome biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.

0numbers the graph read from it
0cells of the map it votes in
52citing papers in PubMed
14.0field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

52 citing papers in PubMed, 79 citations in OpenAlex.

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  6. Integrating polygenic and transcriptional risk scores for detecting Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 6 institutions in 1 country.

Yanyu LiangSection of Genetic Medicine, Department of Medicine, The University of Chicago, Chicago, IL, USA. yanyul@uchicago.edu.
Milton PividoriDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104, PA, USA.
Ani ManichaikulCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.
Abraham A PalmerDepartment of Psychiatry, University of California San Diego, San Diego, CA, USA.
Nancy J CoxVanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Heather E WheelerDepartment of Biology, Loyola University Chicago, Chicago, IL, USA.
Hae Kyung ImSection of Genetic Medicine, Department of Medicine, The University of Chicago, Chicago, IL, USA. haky@uchicago.edu.ORCID 0000-0003-0333-5685
University of Chicago · USLoyola University Chicago · USUniversity of California San Diego · USUniversity of Pennsylvania · USUniversity of Virginia · USVanderbilt University Medical Center · US

Funding

Pilot and Feasibility ProgramP30DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI Raghavendra G Mirmira · 2013 to 2026
$20.9M
Transcriptome-wide association studies for Alzheimer’s disease integrating RNA splicing and gene expression from multiple tissuesR01CA242929 · NCI · UNIVERSITY OF CHICAGO · PI GAO, GUIMIN, HUO, DEZHENG · 2019 to 2022
$1.7M
Predicted Gene Expression: High Power, Mechanism, and Direction of EffectR01MH107666 · NIMH · UNIVERSITY OF CHICAGO · PI IM, HAE KYUNG · 2015 to 2017
$1.3M
Predicting gene regulation across populations to understand mechanisms underlying complex traitsR15HG009569 · NHGRI · LOYOLA UNIVERSITY OF CHICAGO · PI WHEELER, HEATHER ELIZABETH · 2017 to 2023
$1.3M
Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NCI NIH HHS R01 CA242929NHGRI NIH HHS R15 HG009569NIDDK NIH HHS P30 DK020595NIMH NIH HHS R01 MH107666
6 · The paper itself

Abstract

backgroundPolygenic 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.

resultsWe 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.

conclusionsWe 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.

Indexed as

Genome-Wide Association StudyTranscriptomeGenetic Predisposition to DiseaseHumansMultifactorial InheritancePolymorphism, Single NucleotideRisk Factors

Identifiers

PMID35027082
PMCPMC8759285
OpenAlexW4205475060

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.