Evidence map›Paper›PMID 38866767›Full record

ArticleNature communications2024

A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk.

Bradley Jermy, Kristi Läll, Brooke N Wolford, Ying Wang, Kristina Zguro, Yipeng Cheng, Masahiro Kanai, Stavroula Kanoni, Zhiyu Yang, Tuomo Hartonen and 22 more

Abstract read
In one paragraph

Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

25 citing papers in PubMed, 1 synthesis or guideline pooled it.

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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

32 authors.

Bradley Jermy *Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-3188-9581
Kristi Läll *Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Brooke N Wolford *K. G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health, Norwegian University of Science and Technology, Trondheim, Norway.ORCID http://orcid.org/0000-0003-3153-1552
Ying WangAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-7808-6279
Kristina ZguroMed Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.
Yipeng ChengCentre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Masahiro KanaiAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-5165-4408
Stavroula KanoniWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0002-1691-9615
Zhiyu YangInstitute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland.
Tuomo HartonenInstitute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-5535-1698
Remo MontiHasso Plattner Institute, Digital Engineering Faculty, University of Potsdam, Potsdam, Germany.ORCID http://orcid.org/0000-0002-6354-8319
Julian WannerInstitute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-1487-7909
Omar YoussefHelsinki Biobank, Hospital District of Helsinki and Uusimaa (HUS), Helsinki, Finland.ORCID http://orcid.org/0000-0002-1827-9156
Estonian Biobank research team
FinnGen
Christoph LippertHasso Plattner Institute, Digital Engineering Faculty, University of Potsdam, Potsdam, Germany.ORCID http://orcid.org/0000-0001-6363-2556
David van HeelBlizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0002-0637-2265
Yukinori OkadaDepartment of Genome Informatics, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan.ORCID http://orcid.org/0000-0002-0311-8472
Daniel L McCartneyCentre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0003-3242-0360
Caroline HaywardMedical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-9405-9550
Riccardo E MarioniCentre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0003-4430-4260
Simone FuriniMed Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.
Alessandra RenieriMed Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.ORCID http://orcid.org/0000-0002-0846-9220
Alicia R MartinAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-0241-3522
Benjamin M NealeAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-1513-6077
Kristian HveemK. G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health, Norwegian University of Science and Technology, Trondheim, Norway.
Reedik MägiEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0002-2964-6011
Aarno PalotieInstitute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-2527-5874
Henrike HeyneInstitute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0001-9893-3850
Nina MarsInstitute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-7259-5993
Andrea GannaInstitute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland. andrea.ganna@helsinki.fi.
Samuli RipattiInstitute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland. samuli.ripatti@helsinki.fi.ORCID http://orcid.org/0000-0002-0504-1202

Funding

Wellcome Trust
6 · The paper itself

Abstract

Polygenic scores (PGSs) offer the ability to predict genetic risk for complex diseases across the life course; a key benefit over short-term prediction models. To produce risk estimates relevant to clinical and public health decision-making, it is important to account for varying effects due to age and sex. Here, we develop a novel framework to estimate country-, age-, and sex-specific estimates of cumulative incidence stratified by PGS for 18 high-burden diseases. We integrate PGS associations from seven studies in four countries (N = 1,197,129) with disease incidences from the Global Burden of Disease. PGS has a significant sex-specific effect for asthma, hip osteoarthritis, gout, coronary heart disease and type 2 diabetes (T2D), with all but T2D exhibiting a larger effect in men. PGS has a larger effect in younger individuals for 13 diseases, with effects decreasing linearly with age. We show for breast cancer that, relative to individuals in the bottom 20% of polygenic risk, the top 5% attain an absolute risk for screening eligibility 16.3 years earlier. Our framework increases the generalizability of results from biobank studies and the accuracy of absolute risk estimates by appropriately accounting for age- and sex-specific PGS effects. Our results highlight the potential of PGS as a screening tool which may assist in the early prevention of common diseases.

Indexed as

Genetic Predisposition to DiseaseMultifactorial InheritanceAdultAgedAge FactorsDiabetes Mellitus, Type 2FemaleGlobal Burden of DiseaseHumansIncidenceMaleMiddle AgedRisk AssessmentRisk FactorsSex Factors

Identifiers

PMID38866767
PMCPMC11169548

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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.