Evidence map›Paper›PMID 32878958›Full record

ArticleG3 (Bethesda, Md.)2020

Polygenic Scores for Height in Admixed Populations.

Bárbara D Bitarello, Iain Mathieson

Open access · goldAbstract read
In one paragraph

Article in G3 (Bethesda, Md.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
70citing papers in PubMed, 1 pooled it
19.4field-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

70 citing papers in PubMed, 1 synthesis or guideline pooled it, 143 citations in OpenAlex.

  1. Pooled it
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10 more citing papers are in PubMed but not listed here.

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

2 authors at 1 institution in 1 country.

Bárbara D BitarelloDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104 barbara.bitarello@pennmedicine.upenn.edu mathi@pennmedicine.upenn.edu.ORCID 0000-0001-7676-9367
Iain MathiesonDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104 barbara.bitarello@pennmedicine.upenn.edu mathi@pennmedicine.upenn.edu.
University of Pennsylvania · US

Funding

HRS Yrs29-34: Y33 SSA CoFundingU01AG009740 · NIA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Jessica Faul, KENNETH M LANGA · 1990 to 2026
$555.8M
Creating a National Resource for Genetic Research in Behavioral & Health SciencesRC2AG036495 · NIA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI WEIR, DAVID R. · 2009 to 2010
$7.4M
Expanding a National Resource for Genetic Research in Behavioral & Health ScienceRC4AG039029 · NIA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI WEIR, DAVID R. · 2010 to 2010
$6.0M
Polygenic prediction and evolution of complex traitsR35GM133708 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Iain Neil Mathieson · 2019 to 2026
$2.9M
BLOOD COAGULATION &FIBRINOLYSISR01HL065226 · NHLBI · SCRIPPS RESEARCH INSTITUTE · PI MACKMAN, NIGEL · 2000 to 2004
$1.8M
SLEEP AND ENTRAINMENT OF SCN FUNCTIONR01HL064278 · NHLBI · CASE WESTERN RESERVE UNIVERSITY · PI STROHL, KINGMAN PERKINS · 1999 to 2002
$871k
NHLBI NIH HHS HHSN268201600001CNHLBI NIH HHS HHSN268201600002CNHLBI NIH HHS HHSN268201600003CNHLBI NIH HHS HHSN268201600004CNHLBI NIH HHS HHSN268201600018CNHLBI NIH HHS HHSN268201800010INHLBI NIH HHS HHSN268201800011CNHLBI NIH HHS HHSN268201800011INHLBI NIH HHS HHSN268201800012CNHLBI NIH HHS HHSN268201800012INHLBI NIH HHS HHSN268201800014CNHLBI NIH HHS HHSN268201800014INHLBI NIH HHS HHSN268201800015INHLBI NIH HHS N01 HC065226NHLBI NIH HHS N02 HL064278NIA NIH HHS RC2 AG036495NIA NIH HHS RC4 AG039029NIA NIH HHS U01 AG009740NIGMS NIH HHS R35 GM133708NIMHD NIH HHS HHSN268201800013I
6 · The paper itself

Abstract

Polygenic risk scores (PRS) use the results of genome-wide association studies (GWAS) to predict quantitative phenotypes or disease risk at an individual level, and provide a potential route to the use of genetic data in personalized medical care. However, a major barrier to the use of PRS is that the majority of GWAS come from cohorts of European ancestry. The predictive power of PRS constructed from these studies is substantially lower in non-European ancestry cohorts, although the reasons for this are unclear. To address this question, we investigate the performance of PRS for height in cohorts with admixed African and European ancestry, allowing us to evaluate ancestry-related differences in PRS predictive accuracy while controlling for environment and cohort differences. We first show that the predictive accuracy of height PRS increases linearly with European ancestry and is partially explained by European ancestry segments of the admixed genomes. We show that recombination rate, differences in allele frequencies, and differences in marginal effect sizes across ancestries all contribute to the decrease in predictive power, but none of these effects explain the decrease on its own. Finally, we demonstrate that prediction for admixed individuals can be improved by using a linear combination of PRS that includes ancestry-specific effect sizes, although this approach is at present limited by the small size of non-European ancestry discovery cohorts.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyBlack PeopleHumansMultifactorial InheritanceWhite PeopleadmixtureancestryGenomic predictionGenPredheightpolygenic scoresShared data resources

Identifiers

PMID32878958
PMCPMC7642950
OpenAlexW3082742806

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.