ArticleCells2022
Genome-Wide Association Study Identifies
Article in Cells, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled 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.
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.
Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 32 citations in OpenAlex.
- ACTN3 c.1729C>T Polymorphism Might Not Be a Standalone Factor in Non-contact Musculoskeletal Injury: A Systematic Review and Meta-analysis.Sports medicine (Auckland, N.Z.) · 2026Pooled it
- Pooled it
- TheNutrients · 2023Trial
- EPAS1 is associated with human muscle fiber composition and endurance phenotypes.Physiological reports · 2026Article
- Association analysis of indel variants and gene expression identifies MDM4 as a novel locus for skeletal muscle hypertrophy and power athlete status.Experimental physiology · 2025Article
- Review
- SkeletAge: Transcriptomics-based Aging Clock Identifies 26 New Targets in Skeletal Muscle Aging.bioRxiv : the preprint server for biology · 2025Article
- Article
- Multi-phase, multi-ethnic GWAS uncovers putative loci in predisposition to elite sprint and power performance, health and disease.Biology of sport · 2025Article
- Next-Generation Approaches in Sports Medicine: The Role of Genetics, Omics, and Digital Health in Optimizing Athlete Performance and Longevity-A Narrative Review.Life (Basel, Switzerland) · 2025Review
- From Genes to Disease: ReassessingInternational journal of molecular sciences · 2025Article
- Comparative analysis of miRNA expression in Yili horses pre- and post-5000-m race.Frontiers in genetics · 2025Article
- Testing in Football: A Narrative Review.Sports (Basel, Switzerland) · 2024Review
- Transcriptome analysis revealed differences in gene expression in sheep muscle tissue at different developmental stages.BMC genomic data · 2024Article
- Genes and Athletic Performance: The 2023 Update.Genes · 2023Review
- Article
- Diversity and Differential Expression of MicroRNAs in the Human Skeletal Muscle with Distinct Fiber Type Composition.Life (Basel, Switzerland) · 2023Article
- Molecular signatures of sprint, strength, and power performance: Integrating genetic, epigenetic, transcriptomic, and telomeric evidence.Science progressReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 13 institutions in 4 countries.
Funding
Abstract
Muscle fiber composition is associated with physical performance, with endurance athletes having a high proportion of slow-twitch muscle fibers compared to power athletes. Approximately 45% of muscle fiber composition is heritable, however, single nucleotide polymorphisms (SNP) underlying inter-individual differences in muscle fiber types remain largely unknown. Based on three whole genome SNP datasets, we have shown that the rs236448 A allele located near the cyclin-dependent kinase inhibitor 1A (CDKN1A) gene was associated with an increased proportion of slow-twitch muscle fibers in Russian (n = 151; p = 0.039), Finnish (n = 287; p = 0.03), and Japanese (n = 207; p = 0.008) cohorts (meta-analysis: p = 7.9 × 10−5. Furthermore, the frequency of the rs236448 A allele was significantly higher in Russian (p = 0.045) and Japanese (p = 0.038) elite endurance athletes compared to ethnically matched power athletes. On the contrary, the C allele was associated with a greater proportion of fast-twitch muscle fibers and a predisposition to power sports. CDKN1A participates in cell cycle regulation and is suppressed by the miR-208b, which has a prominent role in the activation of the slow myofiber gene program. Bioinformatic analysis revealed that the rs236448 C allele was associated with increased CDKN1A expression in whole blood (p = 8.5 × 10−15) and with greater appendicular lean mass (p = 1.2 × 10−5), whereas the A allele was associated with longer durations of exercise (p = 0.044) reported amongst the UK Biobank cohort. Furthermore, the expression of CDKN1A increased in response to strength (p < 0.0001) or sprint (p = 0.00035) training. Accordingly, we found that CDKN1A expression is significantly (p = 0.002) higher in the m. vastus lateralis of strength athletes compared to endurance athletes and is positively correlated with the percentage of fast-twitch muscle fibers (p = 0.018). In conclusion, our data suggest that the CDKN1A rs236448 SNP may be implicated in the determination of muscle fiber composition and may affect athletic performance.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.