Evidence map›Paper›PMID 37337639›Full record

ArticleClinical and translational medicine2023

Trans-ethnic polygenic risk scores for body mass index: An international hundred K+ cohorts consortium study.

Hui-Qi Qu, John J Connolly, Peter Kraft, Jirong Long, Alexandre Pereira, Christopher Flatley, Constance Turman, Bram Prins, Frank Mentch, Paulo A Lotufo and 11 more

Open access · goldAbstract read
In one paragraph

Article in Clinical and translational medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.3field-weighted citation impact, top 19% 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

6 citing papers in PubMed, 6 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

21 authors at 6 institutions in 5 countries.

Hui-Qi QuThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID https://orcid.org/0000-0001-9317-4488
John J ConnollyThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Peter KraftDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Alexandre PereiraDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
Christopher FlatleyDivision of Health Data and Digitalization, Department of Genetics and Bioinformatics, Norwegian Institute of Public Health, Oslo, Norway.
Constance TurmanDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
Bram PrinsBritish Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Frank MentchThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Paulo A LotufoFaculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Per MagnusUniversity of Oslo, Oslo, Norway.
Meir J StampferDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
Rulla TamimiDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
A Heather EliassenDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Gun Peggy Stromstad KnudsenDivision of Health Data and Digitalization, Department of Genetics and Bioinformatics, Norwegian Institute of Public Health, Oslo, Norway.
Oyvind HelgelandDivision of Health Data and Digitalization, Department of Genetics and Bioinformatics, Norwegian Institute of Public Health, Oslo, Norway.
Adam S ButterworthBritish Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Hakon HakonarsonThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID https://orcid.org/0000-0003-2814-7461
Patrick M SleimanThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
IHCC consortium
Harvard University · USChildren's Hospital of Philadelphia · USNorwegian Institute of Public Health · NOUniversity of Cambridge · GBVanderbilt University Medical Center · USUniversidade de São Paulo · BR

Funding

Cohort Study of Cancer inhibitory Factors in MenR01CA082729 · NCI · VANDERBILT UNIVERSITY · PI SHU, XIAO-OU · 2001 to 2011
$6.3M
Shanghai Womens Health StudyUM1CA182910 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ZHENG, WEI · 2014 to 2018
$5.9M
Shanghai Men's Health StudyUM1CA173640 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI SHU, XIAO-OU · 2013 to 2017
$4.9M
Cancer Risk Reduction and Diet: A Cohort Study of WomenR37CA070867 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ZHENG, WEI · 2009 to 2013
$4.7M
British Heart Foundation RG/13/13/30194British Heart Foundation RG/18/13/33946British Heart Foundation SP/09/002Chief Scientist OfficeDepartment of Health BRC-1215-20014Department of Health BTRU-2014-10024Medical Research Council MR/L003120/1NCI NIH HHS R01 CA082729NCI NIH HHS R37 CA070867NCI NIH HHS UM1 CA173640NCI NIH HHS UM1 CA182910Wellcome Trust
6 · The paper itself

Abstract

backgroundWhile polygenic risk scores hold significant promise in estimating an individual's risk of developing a complex trait such as obesity, their application in the clinic has, to date, been limited by a lack of data from non-European populations. As a collaboration model of the International Hundred K+ Cohorts Consortium (IHCC), we endeavored to develop a globally applicable trans-ethnic PRS for body mass index (BMI) through this relatively new international effort.

methodsThe polygenic risk score (PRS) model was developed, trained and tested at the Center for Applied Genomics (CAG) of The Children's Hospital of Philadelphia (CHOP) based on a BMI meta-analysis from the GIANT consortium. The validated PRS models were subsequently disseminated to the participating sites. Scores were generated by each site locally on their cohorts and summary statistics returned to CAG for final analysis.

resultsWe show that in the absence of a well powered trans-ethnic GWAS from which to derive marker SNPs and effect estimates for PRS, trans-ethnic scores can be generated from European ancestry GWAS using Bayesian approaches such as LDpred, by adjusting the summary statistics using trans-ethnic linkage disequilibrium reference panels. The ported trans-ethnic scores outperform population specific-PRS across all non-European ancestry populations investigated including East Asians and three-way admixed Brazilian cohort.

conclusionsHere we show that for a truly polygenic trait such as BMI adjusting the summary statistics of a well powered European ancestry study using trans-ethnic LD reference results in a score that is predictive across a range of ancestries including East Asians and three-way admixed Brazilians.

Indexed as

Genome-Wide Association StudyMultifactorial InheritanceBayes TheoremBody Mass IndexChildHumansRisk Factorsbody mass indexobesitypolygenic risk scorepopulation admixturetrans-ethnic

Identifiers

PMID37337639
PMCPMC10280047
OpenAlexW4381248689

What Socratic holds

Textmetadata
LicenceCC BY
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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 Socratic graph.