{
    "abstract": "Limited data from genome-wide association studies (GWAS) focusing on oral tongue squamous cell carcinoma (OTSCC) are available. The present study was conducted to explore genetic associations for OTSCC.\nA GWAS on 376 cases of OTSCC was conducted using the FinnGen Data Freeze-12 dataset. The case-cohort included 205 males and 171 females. Cases with malignancies involving the base of the tongue or lingual tonsil were excluded from the case-cohort. Individuals with no recorded history of malignancy were used as controls (n\u2009=\u2009407,067). A Phenome-wide association study (PheWAS) was performed for the lead variants to assess their co-associations with other cancers.\nGWAS analysis identified three genome-wide significant loci associated with OTSCC (p\u2009<\u20095\u2009\u00d7\u200910-8), located at 5p15.33 (rs27067 near gene LINC01511), 10q24 (rs1007771191 near RPS3AP36), and 20p12.3 (rs1438070080 near PLCB1), respectively. PheWAS showed associations of rs27067 mainly with prostate cancer (OR\u2009=\u20091.06, p\u2009=\u20095.41\u2009\u00d7\u200910\nThe GWAS detected two novel genetic associations with OTSCC. Further research is needed to identify the genes at these loci that contribute to the molecular pathogenesis of OTSCC.",
    "authors": [
        {
            "affiliation": "Department of Otorhinolaryngology - Head and Neck Surgery, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.\nFinnish Cancer Registry, Institute for Statistical and Epidemiological Cancer and Research, Helsinki, Finland.\nResearch Program in Systems Oncology, Faculty of Medicine, University of Helsinki, Helsinki, Finland.",
            "firstname": "Rayan",
            "initials": "R",
            "lastname": "Nikkil\u00e4"
        },
        {
            "affiliation": "Department of Otorhinolaryngology - Head and Neck Surgery, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.\nResearch Program in Systems Oncology, Faculty of Medicine, University of Helsinki, Helsinki, Finland.",
            "firstname": "Antti",
            "initials": "A",
            "lastname": "M\u00e4kitie"
        },
        {
            "affiliation": "Department of Oncology, HUS Helsinki University Hospital and University of Helsinki, Helsinki, Finland.",
            "firstname": "Heikki",
            "initials": "H",
            "lastname": "Joensuu"
        },
        {
            "affiliation": "Department of Otolaryngology, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.\nThe Wellbeing Services County of Pirkanmaa, Tampere, Finland.",
            "firstname": "Saara",
            "initials": "S",
            "lastname": "Markkanen"
        },
        {
            "affiliation": "Institute of Biomedicine, and MediCity Research Laboratory, University of Turku, Turku, Finland.\nTurku Bioscience Centre, University of Turku and \u00c5bo Akademi University, Turku, Finland.\nDepartment of Oncology, Turku University Hospital, Turku, Finland.",
            "firstname": "Klaus",
            "initials": "K",
            "lastname": "Elenius"
        },
        {
            "affiliation": "Department of Oncology, HUS Helsinki University Hospital and University of Helsinki, Helsinki, Finland.\niCAN Digital Precision Cancer Medicine Flagship, University of Helsinki, Helsinki, Finland.\nApplied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.",
            "firstname": "Outi",
            "initials": "O",
            "lastname": "Monni"
        },
        {
            "affiliation": "Institute for Molecular Medicine Finland and the Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.\nThe Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.\nAnalytic and Translational Genetics Unit, Department of Medicine, Department of Neurology, and Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.",
            "firstname": "Aarno",
            "initials": "A",
            "lastname": "Palotie"
        },
        {
            "affiliation": "Department of Otorhinolaryngology - Head and Neck Surgery, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.\nResearch Program in Systems Oncology, Faculty of Medicine, University of Helsinki, Helsinki, Finland.\nInstitute for Molecular Medicine Finland and the Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.",
            "firstname": "Elmo",
            "initials": "E",
            "lastname": "Saarentaus"
        },
        {
            "affiliation": null,
            "firstname": null,
            "initials": null,
            "lastname": null
        },
        {
            "affiliation": "Department of Oral and Maxillofacial Diseases, University of Helsinki, Helsinki, Finland.\nTranslational Immunology Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.\nDepartment of Pathology, HUS Helsinki University Hospital, Helsinki, Finland.\nResearch Unit of Population Health, Faculty of Medicine, University of Oulu, Oulu, Finland.\nMedical Research Center, Oulu University Hospital, Oulu, Finland.",
            "firstname": "Tuula",
            "initials": "T",
            "lastname": "Salo"
        },
        {
            "affiliation": "Department of Otolaryngology, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland. argyro.bizaki-vallaskangas@tuni.fi.\nThe Wellbeing Services County of Pirkanmaa, Tampere, Finland. argyro.bizaki-vallaskangas@tuni.fi.",
            "firstname": "Argyro",
            "initials": "A",
            "lastname": "Bizaki-Vallaskangas"
        }
    ],
    "conclusions": "The GWAS detected two novel genetic associations with OTSCC. Further research is needed to identify the genes at these loci that contribute to the molecular pathogenesis of OTSCC.",
    "copyrights": "\u00a9 2025. The Author(s).",
    "doi": "10.1007/s12105-025-01784-0",
    "journal": "Head and neck pathology",
    "keywords": [
        "FinnGen",
        "Genetic variant",
        "Genome-wide association",
        "Single nucleotide polymorphism",
        "Tongue cancer"
    ],
    "methods": null,
    "publication_date": "2025-04-25",
    "pubmed_id": "40278994\n29274153\n35312982\n29984792\n37176704\n37345025\n22042713\n32472619\n27749845\n36769103\n36398465\n20614290\n28486965\n36653562\n23563607\n19151717\n36596869\n11162647\n22675468\n34586883\n28025427\n30635792\n37545614\n7605428\n33329574\n26846696\n37075587\n24878663\n10583506\n17082770\n18722032\n11309621\n11374898\n30002559\n27791200\n36854874\n32319594\n38652041\n34265363\n20546740\n38095060\n29379212\n26679095\n36140220\n25480554\n26701804\n31509262\n21653680\n31883110\n30554916\n34580062\n26620550\n27051304\n37208557\n28212550\n31788080\n21376230",
    "results": "GWAS analysis identified three genome-wide significant loci associated with OTSCC (p\u2009<\u20095\u2009\u00d7\u200910-8), located at 5p15.33 (rs27067 near gene LINC01511), 10q24 (rs1007771191 near RPS3AP36), and 20p12.3 (rs1438070080 near PLCB1), respectively. PheWAS showed associations of rs27067 mainly with prostate cancer (OR\u2009=\u20091.06, p\u2009=\u20095.41\u2009\u00d7\u200910",
    "title": "Novel Genetic Risk Variants Associated with Oral Tongue Squamous Cell Carcinoma.",
    "xml": "<Element 'PubmedArticle' at 0x788505d97740>"
}