Evidence map›Paper›PMID 26664818›Full record

ArticleCurrent epidemiology reports2015

Polygenic Scores in Epidemiology: Risk Prediction, Etiology, and Clinical Utility.

Brion S Maher

Open access · bronzeAbstract read
In one paragraph

Article in Current epidemiology reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
44citing papers in PubMed, 2 pooled it
3.7field-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

44 citing papers in PubMed, 2 syntheses or guidelines pooled it, 69 citations in OpenAlex.

  1. Pooled it
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  12. Improving polygenic prediction from whole-genome sequencing data by leveraging predicted epigenomic features.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  13. Article
  14. Article
  15. Mapping associations of polygenic scores with autistic and ADHD traits in a single city region.Journal of child psychology and psychiatry, and allied disciplines · 2025
    Article
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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

1 author at 1 institution in 1 country.

Brion S MaherDepartment of Mental Health, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD.
Johns Hopkins University · US

Funding

Functional Genomics and Epigenomics in HIV of Longitudinal Injection Drug Use TrajectoryR01DA039408 · NIDA · JOHNS HOPKINS UNIVERSITY · PI MAHER, BRION S · 2015 to 2019
$3.1M
Genes, Environment and Drug Use in Three Baltimore CohortsR01DA036525 · NIDA · JOHNS HOPKINS UNIVERSITY · PI MAHER, BRION S · 2015 to 2017
$727k
Genetic Epidemiology of HIV Risk Behavior Trajectory in the ALIVE CohortR03DA035693 · NIDA · JOHNS HOPKINS UNIVERSITY · PI MAHER, BRION S · 2013 to 2014
$324k
NIDA NIH HHS R01 DA036525NIDA NIH HHS R01 DA039408NIDA NIH HHS R03 DA035693
6 · The paper itself

Abstract

Genes account for a significant proportion of the risk for most common diseases. The genome-wide association scan (GWAS) era of genetic epidemiology has generated a massive amount of data, revolutionized our thinking on the genetic architecture of common diseases and positioned the field to realistically consider risk prediction for common polygenic diseases, such as non-familial cancers, and autoimmune, cardiovascular and psychiatric diseases. Polygenic scoring is an approach that shows promise for understanding the polygenic contribution to common human diseases. This is an approach typically relying on genome-wide SNP data, where a set of SNPs identified in a discovery GWAS are used to construct composite polygenic scores. These scores are then used in additional samples for association testing or risk prediction. This review summarizes the extant literature on the use, power, and accuracy of polygenic scores in studies of the etiology of disease and the promise for disease risk prediction.

Indexed as

Genetic RiskGWASPolygenicPolygenic RiskPolygenic Scores

Identifiers

PMID26664818
PMCPMC4671512
OpenAlexW1804514293

What OpenQuestion holds

Textmetadata
LicenceTDM
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.