Evidence map›Paper›PMID 37986041›Full record

ArticleBMC genomic data2023

Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation.

Pritesh R Jain, Myson Burch, Melanie Martinez, Pablo Mir, Jakub P Fichna, Cezary Zekanowski, Renata Rizzo, Zeynep Tümer, Csaba Barta, Evangelia Yannaki and 3 more

Abstract read
In one paragraph

Article in BMC genomic data, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–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

5 citing papers in PubMed.

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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

13 authors.

Pritesh R JainDepartment of Biological Sciences, Purdue University, West Lafayette, IN, USA.
Myson BurchDepartment of Computer Sciences, Purdue University, West Lafayette, IN, USA.
Melanie MartinezDepartment of Biological Sciences, Purdue University, West Lafayette, IN, USA.
Pablo MirUnidad de Trastornos del Movimiento, Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
Jakub P FichnaDepartment of Biological Sciences, Purdue University, West Lafayette, IN, USA.
Cezary ZekanowskiDepartment of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland.
Renata RizzoChild and Adolescent Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Zeynep TümerDepartment of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Csaba BartaDepartment of Molecular Biology, Institute of Biochemistry and Molecular Biology, Semmelweis University, Budapest, Hungary.
Evangelia YannakiHematology Department- Hematopoietic Cell Transplantation Unit, Gene and Cell Therapy Center, George Papanikolaou Hospital, Thessaloniki, Greece.
John StamatoyannopoulosAltius Institute for Biomedical Sciences, Seattle, WA, USA.
Petros DrineasDepartment of Computer Sciences, Purdue University, West Lafayette, IN, USA.
Peristera PaschouDepartment of Biological Sciences, Purdue University, West Lafayette, IN, USA. ppaschou@purdue.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Complex disorders are caused by a combination of genetic, environmental and lifestyle factors, and their prevalence can vary greatly across different populations. The extent to which genetic risk, as identified by Genome Wide Association Study (GWAS), correlates to disease prevalence in different populations has not been investigated systematically. Here, we studied 14 different complex disorders and explored whether polygenic risk scores (PRS) based on current GWAS correlate to disease prevalence within Europe and around the world. A clear variation in GWAS-based genetic risk was observed based on ancestry and we identified populations that have a higher genetic liability for developing certain disorders. We found that for four out of the 14 studied disorders, PRS significantly correlates to disease prevalence within Europe. We also found significant correlations between worldwide disease prevalence and PRS for eight of the studied disorders with Multiple Sclerosis genetic risk having the highest correlation to disease prevalence. Based on current GWAS results, the across population differences in genetic risk for certain disorders can potentially be used to understand differences in disease prevalence and identify populations with the highest genetic liability. The study highlights both the limitations of PRS based on current GWAS but also the fact that in some cases, PRS may already have high predictive power. This could be due to the genetic architecture of specific disorders or increased GWAS power in some cases.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyHumansMultifactorial InheritancePrevalenceRisk FactorsAncestryDisease prevalenceGWASPolygenic risk scorePRS

Identifiers

PMID37986041
PMCPMC10662565

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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.