{
  "abstract": "Background: Athletic performance is a result of interaction between genetic and environmental factors, including training, nutrition, rest, hormonal and psychophysiological status. Numerous genes and polymorphisms can influence key physiological processes, such as muscle contractility, energy metabolism, oxidative capacity, and cardiovascular efficiency. Among these, the ACTN3 gene, and in particular the polymorphism rs1815739 (NM_001104.4:c.1729C>T; p.Arg577Ter), is well known for its association with athletic performance, but emerging evidence suggests broader effects on metabolic and inflammatory phenotypes. Methods: For this study, 109 elite athletes were enrolled and genotyped for ACTN3 c.1729C>T by Sanger sequencing. Moreover, biochemical markers, such as creatine kinase (CK), C-reactive protein (CRP), lipid profile, adiponectin, and neutrophil-to-lymphocyte ratio (NLR), were examined. Finally, to better investigate the association between genotype and athletic performance, the genotypes and the results of standardized physical tests were correlated in a small exploratory subgroup of 28 professional basketball athletes. Normality was assessed using the Shapiro-Wilk test; non-normally distributed variables were summarized as median [IQR] and analyzed with non-parametric methods. Genotype comparisons were adjusted for multiple testing using the Holm procedure, and principal biochemical models were adjusted for age, BMI, sex, and ancestry. Results: The c.1729C>T genotype distribution differed between the two ancestry groups (exact p = 0.049), and all three variants were compatible with Hardy-Weinberg equilibrium within the ancestry groups. No biochemical genotype association remained statistically significant after Holm correction. In the performance subgroup, no genotype-performance association remained significant after Holm correction. Conclusions: In this cohort, the corrected analyses did not provide robust evidence for genotype-dependent biochemical or performance effects. The results are exploratory and require replication in larger cohorts, considering ancestry and gender differences.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.",
    "CEINGE-Biotecnologie Avanzate, via Gaetano Salvatore 486, 80045 Naples, Italy.",
    "NutriSportHealthLab, University of Naples Federico II, Via Sergio Pansini 5, 80131 Naples, Italy.",
    "Division of Cardiology, University of Colorado School of Medicine, 12505 E. 16th Avenue, Anschutz Inpatient Pavilion 2, Aurora, CO 80045, USA.",
    "Department of Education and Sports Sciences, Pegaso Telematic University, 80143 Naples, Italy.",
    "SS Napoli Basket SRL, 80127 Naples, Italy.",
    "Centro Universitario Sportivo di Napoli, Via Campegna 267, 80124 Naples, Italy.",
    "Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania \"Luigi Vanvitelli\", Via Vivaldi 43, 81100 Caserta, Italy.",
    "Department of Translational Medical Sciences, University of Naples \"Federico II\", 80131 Naples, Italy.",
    "Department of Medical, Human Movement and Well-Being Sciences, University Parthenope, Via Medina 40, 80133 Naples, Italy.",
    "Department of Medical, Oral and Biotechnological Sciences, Laboratory of Biostatistics, University G. d'Annunzio of Chieti-Pescara, 66100 Chieti, Italy."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 23,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Antonio Imperatore",
      "orcid": "0009-0008-9010-5282"
    },
    {
      "affs": [
        1,
        2
      ],
      "name": "Fernanda Iafusco",
      "orcid": "0000-0002-5305-6775"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Mariella Calvanese",
      "orcid": "0000-0003-1126-0644"
    },
    {
      "affs": [
        0,
        3
      ],
      "name": "Alessandro Gentile",
      "orcid": "0000-0002-1092-6814"
    },
    {
      "affs": [
        0
      ],
      "name": "Raffaele Amitrano",
      "orcid": "0009-0007-4747-5301"
    },
    {
      "affs": [
        0
      ],
      "name": "Fabiana Di Fusco"
    },
    {
      "affs": [
        1,
        4
      ],
      "name": "Marta Mallardo",
      "orcid": "0000-0002-7482-2205"
    },
    {
      "affs": [
        5
      ],
      "name": "Gaetano Iaquinto",
      "orcid": "0009-0000-6404-2929"
    },
    {
      "affs": [
        5
      ],
      "name": "Mattia Digno"
    },
    {
      "affs": [
        6
      ],
      "name": "Salvatore Tamburro"
    },
    {
      "affs": [
        1,
        2,
        7
      ],
      "name": "Ersilia Nigro",
      "orcid": "0000-0001-5637-1685"
    },
    {
      "affs": [
        1,
        2,
        8
      ],
      "name": "Roberto Berni Canani",
      "orcid": "0000-0002-5169-9574"
    },
    {
      "affs": [
        1,
        2,
        9
      ],
      "name": "Annamaria Mancini",
      "orcid": "0000-0002-8595-1387"
    },
    {
      "affs": [
        1,
        2,
        9
      ],
      "name": "Pasqualina Buono",
      "orcid": "0000-0003-0755-6143"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Cristina Mazzaccara",
      "orcid": "0000-0001-7774-2799"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Barbara Lombardo",
      "orcid": "0000-0003-3884-1043"
    },
    {
      "affs": [
        8
      ],
      "name": "Daniela Terracciano",
      "orcid": "0000-0003-4296-429X"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Giulia Frisso"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Aurora Daniele"
    },
    {
      "affs": [
        10
      ],
      "name": "Paola Borrelli",
      "orcid": "0000-0001-9389-627X"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Cristina Mennitti",
      "orcid": "0000-0001-6355-5976"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Nadia Tinto",
      "orcid": "0000-0003-1070-4231"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Olga Scudiero",
      "orcid": "0000-0002-4916-4976"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/cp3xp91evzr9x.bib",
  "cited_by": 0,
  "doi": "10.3390/genes17101280",
  "fulltext_url": "https://europepmc.org/articles/PMC13704328",
  "id": "cp3xp91evzr9x",
  "issns": [
    "2073-4425"
  ],
  "landing_url": "https://europepmc.org/article/MED/42938396",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "1311|Genetics and Physical Performance"
    ]
  ],
  "openalex": "W7221753609",
  "pdf_url": "https://europepmc.org/articles/PMC13704328?pdf=render",
  "pmcid": "PMC13704328",
  "pmid": "42938396",
  "published": "2026-10-14",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/cp3xp91evzr9x.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:22:12Z",
      "native_id": "MED:42938396",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42938396"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Genetics and Physical Performance",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "ACTN3 Variants Beyond Performance: Metabolic and Inflammatory Implications.",
  "title_text": "ACTN3 Variants Beyond Performance: Metabolic and Inflammatory Implications.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:22:12Z",
  "url": "https://research.draconitic.com/paper/cp3xp91evzr9x",
  "venue": "Genes",
  "versions": []
}