Evidence map›Paper›PMID 40638807›Full record

ArticleMedicine and science in sports and exercise2025

Genetic Determinants of Leisure-Time Physical Activity in the Taiwanese Population: A Genome-Wide Association Study.

Lung-An Hsu, Semon Wu, Ngoc Yen Tran, Hsin-Hua Chou, Yu-Lin Ko

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Article in Medicine and science in sports and exercise, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Lung-An HsuCardiovascular Division, Department of Internal Medicine, Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Taoyuan, TAIWAN.
Semon WuDepartment of Life Science, Chinese Culture University, Taipei, TAIWAN.
Ngoc Yen TranCardiovascular Center and Division of Cardiology, Department of Internal Medicine, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei City, TAIWAN.
Hsin-Hua Chou
Yu-Lin Ko

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPhysical inactivity contributes to systemic disease burden and premature mortality worldwide. Leisure-time physical activity (LTPA) improves health outcomes; however, its genetic determinants, particularly in Asian populations, remain unclear. This study aimed to identify genetic loci associated with LTPA in the Taiwanese population.

methodsWe conducted genome-wide association studies in 122,258 Taiwan Biobank participants. LTPA was assessed both as a binary trait (regular exerciser vs non-exerciser) and an ordinal trait (categorized by MET-hours per week into low, moderate, and high physical activity levels). Logistic and ordinal logistic regression models were used under an additive genetic model, adjusting for age, age 2 , sex, body mass index, smoking, and the first 10 genetic principal components. Candidate nonsynonymous mutations were further examined in 1494 whole-genome sequenced participants.

resultsBinary trait genome-wide association studies identified genome-wide significant (GWS) loci at ATXN2 (12q24.12), FTO (16q12.2), and NOTCH4 (6p21.32), with associations for FTO and NOTCH4 only observed in body mass index (BMI)-adjusted models. Ordinal trait analysis (<10, 10-<20, ≥20 MET·h·wk -1 ) identified a single GWS locus at BRAP (12q24.12). Fine-mapping of 12q24.12 revealed multiple GWS single-nucleotide polymorphisms (SNPs) in strong linkage disequilibrium with lead variants; these signals largely disappeared after conditional analysis, consistent with a single underlying association. Whole-genome sequencing and linkage disequilibrium analysis identified three GWS nonsynonymous mutations, with ALDH2 rs671 emerging as the most likely causal variant.

conclusionsATXN2-ALDH2 region on chromosome 12q24.12 was identified as a key locus for LTPA in Taiwanese individuals. These findings enhance our understanding of the genetic basis of physical activity and may inform future precision medicine and public health strategies.

Indexed as

East Asian PeopleExerciseGenome-Wide Association StudyLeisure ActivitiesAdultAgedAldehyde Dehydrogenase, MitochondrialAlpha-Ketoglutarate-Dependent Dioxygenase FTOFemaleGenetic LociHumansMaleMiddle AgedPolymorphism, Single NucleotideTaiwanAldehyde Dehydrogenase, MitochondrialALDH2 protein, humanAlpha-Ketoglutarate-Dependent Dioxygenase FTOFTO protein, humanALDH2ATXN2FTOGENOME-WIDE ASSOCIATION STUDYLEISURE-TIME PHYSICAL ACTIVITYNOTCH4

Identifiers

PMID40638807
PMCPMC12893172

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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.