Evidence map›Paper›PMID 33739539›Full record

SynthesisGenetic epidemiology2021

Incorporating European GWAS findings improve polygenic risk prediction accuracy of breast cancer among East Asians.

Ying Ji, Jirong Long, Sun-Seog Kweon, Daehee Kang, Michiaki Kubo, Boyoung Park, Xiao-Ou Shu, Wei Zheng, Ran Tao, Bingshan Li

Open access · greenAbstract readMeta-Analysis
In one paragraph

Synthesis in Genetic epidemiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.4field-weighted citation impact, top 18% 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

2 citing papers in PubMed, 9 citations in OpenAlex.

  1. Genomics in Health and Biomedicine.Advances in experimental medicine and biology · 2026
    Review
  2. 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

10 authors at 6 institutions in 3 countries.

Ying JiDepartment of Molecular Physiology & Biophysics, Vanderbilt Genetics Institute, Vanderbilt University, Nashville, Tennessee, USA.ORCID 0000-0001-5691-1303
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Sun-Seog KweonDepartment of Preventive Medicine, Chonnam National University Medical School, Hwasun, Korea.
Daehee KangDepartment of Biomedical Sciences, Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.
Michiaki KuboLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Boyoung ParkDepartment of Medicine, Hanyang University College of Medicine, Seoul, Korea.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Ran TaoDepartment of Biostatistics, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Bingshan LiDepartment of Molecular Physiology & Biophysics, Vanderbilt Genetics Institute, Vanderbilt University, Nashville, Tennessee, USA.ORCID 0000-0003-2129-168X
Vanderbilt University Medical Center · USVanderbilt University · USChonnam National University Hwasun Hospital · KRHanyang University · KRRIKEN Center for Integrative Medical Sciences · JPSeoul National University · KR

Funding

Polygenic Risk Scores for Diverse Populations - Bridging Research and Clinical CareR01HL151152 · NHLBI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI Christy Leigh Avery, Jennifer Below · 2020 to 2026
$12.3M
Analysis, Validation and Resource Creation for Genome Sequencing of Complex DiseasesU01HG009086 · NHGRI · VANDERBILT UNIVERSITY · PI COX, NANCY J, LI, BINGSHAN · 2016 to 2020
$4.3M
NHGRI NIH HHS U01 HG009086NHLBI NIH HHS R01 HL151152
6 · The paper itself

Abstract

Previous genome-wide association studies (GWASs) have been largely focused on European (EUR) populations. However, polygenic risk scores (PRSs) derived from EUR have been shown to perform worse in non-EURs compared with EURs. In this study, we aim to improve PRS prediction in East Asians (EASs). We introduce a rescaled meta-analysis framework to combine both EUR (N = 122,175) and EAS (N = 30,801) GWAS summary statistics. To improve PRS prediction in EASs, we use a scaling factor to up-weight the EAS data, such that the resulting effect size estimates are more relevant to EASs. We then derive PRSs for EAS from the rescaled meta-analysis results of EAS and EUR data. Evaluated in an independent EAS validation data set, this approach increases the prediction liability-adjusted Nagelkerke's pseudo R

Indexed as

Breast NeoplasmsGenome-Wide Association StudyAsian PeopleFemaleGenetic Predisposition to DiseaseHumansMultifactorial InheritancePolymorphism, Single Nucleotidebreast cancergenome-wide association studymeta-analysispolygenic prediction

Identifiers

PMID33739539
PMCPMC8372543
OpenAlexW3137897357

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.