Evidence map›Paper›PMID 35430888›Full record

ReviewPhilosophical transactions of the Royal Society of London. Series B, Biological sciences2022

Polygenic risk, population structure and ongoing difficulties with race in human genetics.

Jonathan Michael Kaplan, Stephanie M Fullerton

Open access · hybridAbstract readReview
In one paragraph

Review in Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
3.4field-weighted citation impact, top 7% 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

7 citing papers in PubMed, 18 citations in OpenAlex.

  1. Article
  2. A data model for population descriptors in genomic research.American journal of human genetics · 2025
    Review
  3. Review
  4. Article
  5. Article
  6. Article
  7. Celebrating 50 years since Lewontin's apportionment of human diversity.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022
    Article
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 2 institutions in 4 countries.

Jonathan Michael KaplanPhilosophy Program, Oregon State University, Corvallis, OR 97331, USA.ORCID 0000-0001-8628-5323
Stephanie M FullertonDepartment of Bioethics and Humanities, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-0938-6048
Oregon State University · USUniversity of Washington · US

Funding

Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
Polygenic Risk Score Methods Development Consortium Coordinating CenterU01HG011697 · NHGRI · UNIVERSITY OF WASHINGTON · PI Kenneth M. Rice · 2021 to 2026
$8.8M
NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01 HG011697
6 · The paper itself

Abstract

'The Apportionment of Human Diversity' stands as a noteworthy intervention, both for the field of human population genetics as well as in the annals of public communication of science. Despite the widespread uptake of Lewontin's conclusion that racial classification is of 'virtually no genetic or taxonomic significance', the biomedical research community continues to grapple with whether and how best to account for race in its work. Nowhere is this struggle more apparent than in the latest attempts to translate genetic associations with complex disease risk to clinical use in the form of polygenic risk scores, or PRS. In this perspective piece, we trace current challenges surrounding the appropriate development and clinical application of PRS in diverse patient cohorts to ongoing difficulties deciding which facets of population structure matter, and for what reasons, to human health. Despite numerous analytical innovations, there are reasons that emerge from Lewontin's work to remain sceptical that accounting for population structure in the context of polygenic risk estimation will allow us to more effectively identify and intervene on the significant health disparities which plague marginalized populations around the world. This article is part of the theme issue 'Celebrating 50 years since Lewontin's apportionment of human diversity'.

Indexed as

Genetics, PopulationMultifactorial InheritanceHuman GeneticsHumansclinical translationgenetic variationhealth disparitiespolygenic risk scorepopulation structurerace

Identifiers

PMID35430888
PMCPMC9014185
OpenAlexW4224034162

What OpenQuestion holds

Textmetadata
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.