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Record W4413258410 · doi:10.1038/s42003-025-08675-8

Predictive capabilities of polygenic scores in an East-Asian population-based cohort: the Singapore Chinese health study

2025· article· en· W4413258410 on OpenAlexfundno aff
Xuling Chang, Chih Chuan Shih, Jieqi Chen, Ai Shan Lee, Patrick Tan, Ling Wang, Jianjun Liu, Jingmei Li, Jian‐Min Yuan, Chiea Chuen Khor, Woon‐Puay Koh, Rajkumar Dorajoo

Bibliographic record

VenueCommunications Biology · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsnot available
FundersInstitute of Infection and ImmunityCancer Science Institute of Singapore, National University of SingaporeMedical Research CouncilUniversity of PittsburghMedical Center, University of PittsburghNational University Health SystemUniversity of MelbourneSingapore Eye Research InstituteNational Institutes of HealthNational Cancer InstituteNational Medical Research CouncilNational University of SingaporeGenome Institute of SingaporeNational Cancer Centre of SingaporeAgency for Science, Technology and ResearchDuke-NUS Medical School
KeywordsChinese populationCohortDemographyEast AsiaPolygenic risk scoreMedicineGeographyPsychologyChinaGeneticsInternal medicineBiologySociologyGenotypeGeneSingle-nucleotide polymorphism

Abstract

fetched live from OpenAlex

Polygenic scores (PGS) are derived primarily from European population studies. It is unclear how these perform in risk predictions among East-Asians. We generated 2173 PGSs from 519 traits and assessed their associations with 58 baseline phenotypes in the Singapore Chinese Health Study, a prospective cohort of 23,622 Chinese adults residing in Singapore. PGS performances were evaluated through explained variance (r²) and area under the receiver operating characteristic curve (AUC) in linear and logistic regression models, respectively. Traits with higher heritability exhibited stronger PGS associations, while behavioural traits, like sleep duration, showed weaker associations. Height and type 2 diabetes (T2D) exhibited largest SNP-based heritability with the largest increments in explained variance and AUC. We explored the effect of T2D risk factors on the association between the T2D PGS (PGS003444) and incident T2D. PGS associations were significantly mediated and modified by hypertension (Pindirect = 1.56 × 10−18, Pinteraction = 2.10 × 10−3) and BMI (Pindirect = 1.25 × 10−36, Pinteraction = 1.11 × 10−6). Prediction ability of PGS003444 for incident T2D was stronger among non-overweight individuals without hypertension (AUC = 0.774) than in overweight individuals with hypertension (AUC = 0.709). Our study demonstrates the divergent ability of PGSs in predictions of complex traits. For certain traits, such as T2D, PGSs may have the potential for improving risk prediction and personalized healthcare. The authors analyzed over 2000 polygenic scores (PGSs) to evaluate their associations with 58 baseline traits in the Singapore Chinese Health Study (SCHS) cohort.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.004
metaresearch head score (Gemma)0.005
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.011
Threshold uncertainty score0.022

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0040.005
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0010.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.019
GPT teacher head0.348
Teacher spread0.329 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations2
Published2025
Admission routes1
Has abstractyes

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