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The present study was conducted to explore genetic associations for OTSCC.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      GWAS analysis identified three genome-wide significant loci associated with OTSCC (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20095\u2009\u00d7\u200910\u20138), 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,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20095.41\u2009\u00d7\u200910\n                      <jats:sup>\u20137<\/jats:sup>\n                      ), and seborrheic keratosis (OR\u2009=\u20091.11,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20091.51\u2009\u00d7\u200910\n                      <jats:sup>\u201311<\/jats:sup>\n                      ). A co-directional effect with melanoma was also observed (OR\u2009=\u20090.93,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20096.24\u2009\u00d7\u200910\n                      <jats:sup>\u20135<\/jats:sup>\n                      ).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s12105-025-01784-0","type":"journal-article","created":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T02:42:30Z","timestamp":1745548950000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel Genetic Risk Variants Associated with Oral Tongue Squamous Cell Carcinoma"],"prefix":"10.1007","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0999-2734","authenticated-orcid":false,"given":"Rayan","family":"Nikkil\u00e4","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0451-2404","authenticated-orcid":false,"given":"Antti","family":"M\u00e4kitie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0281-2507","authenticated-orcid":false,"given":"Heikki","family":"Joensuu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saara","family":"Markkanen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5700-0827","authenticated-orcid":false,"given":"Klaus","family":"Elenius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2319-8799","authenticated-orcid":false,"given":"Outi","family":"Monni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2527-5874","authenticated-orcid":false,"given":"Aarno","family":"Palotie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8475-7187","authenticated-orcid":false,"given":"Elmo","family":"Saarentaus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"FinnGen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6039-0088","authenticated-orcid":false,"given":"Tuula","family":"Salo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9484-0913","authenticated-orcid":false,"given":"Argyro","family":"Bizaki-Vallaskangas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,4,25]]},"reference":[{"key":"1784_CR1","doi-asserted-by":"publisher","first-page":"e29","DOI":"10.4317\/MEDORAL.21999","volume":"23","author":"K Dhanuthai","year":"2018","unstructured":"Dhanuthai K, Rojanawatsirivej S, Thosaporn W et al (2018) Oral cancer: a multicenter study. 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The Biobank Access Decisions for FinnGen samples and data utilized in FinnGen Data Freeze 12 include: THL Biobank BB2017_55, BB2017_111, BB2018_19, BB_2018_34, BB_2018_67, BB2018_71, BB2019_7, BB2019_8, BB2019_26, BB2020_1, BB2021_65, Finnish Red Cross Blood Service Biobank 7.12.2017, Helsinki Biobank HUS\/359\/2017, HUS\/248\/2020, HUS\/430\/2021 \u00a728, \u00a729, HUS\/150\/2022 \u00a712, \u00a713, \u00a714, \u00a715, \u00a716, \u00a717, \u00a718, \u00a723, \u00a758, \u00a759, HUS\/128\/2023 \u00a718, Auria Biobank AB17-5154 and amendment #1 (August 17 2020) and amendments BB_2021-0140, BB_2021-0156 (August 26 2021, Feb 2 2022), BB_2021-0169, BB_2021-0179, BB_2021-0161, AB20-5926 and amendment #1 (April 23 2020) and it\u00b4s modifications (Sep 22 2021), BB_2022-0262, BB_2022-0256, Biobank Borealis of Northern Finland_2017_1013, 2021_5010, 2021_5010 Amendment, 2021_5018, 2021_5018 Amendment, 2021_5015, 2021_5015 Amendment, 2021_5015 Amendment_2, 2021_5023, 2021_5023 Amendment, 2021_5023 Amendment_2, 2021_5017, 2021_5017 Amendment, 2022_6001, 2022_6001 Amendment, 2022_6006 Amendment, 2022_6006 Amendment, 2022_6006 Amendment_2, BB22-0067, 2022_0262, 2022_0262 Amendment, Biobank of Eastern Finland 1186\/2018 and amendment 22\u00a7\/2020, 53\u00a7\/2021, 13\u00a7\/2022, 14\u00a7\/2022, 15\u00a7\/2022, 27\u00a7\/2022, 28\u00a7\/2022, 29\u00a7\/2022, 33\u00a7\/2022, 35\u00a7\/2022, 36\u00a7\/2022, 37\u00a7\/2022, 39\u00a7\/2022, 7\u00a7\/2023, 32\u00a7\/2023, 33\u00a7\/2023, 34\u00a7\/2023, 35\u00a7\/2023, 36\u00a7\/2023, 37\u00a7\/2023, 38\u00a7\/2023, 39\u00a7\/2023, 40\u00a7\/2023, 41\u00a7\/2023, Finnish Clinical Biobank Tampere MH0004 and amendments (21.02.2020 & 06.10.2020), BB2021-0140 8\u00a7\/2021, 9\u00a7\/2021, \u00a79\/2022, \u00a710\/2022, \u00a712\/2022, 13\u00a7\/2022, \u00a720\/2022, \u00a721\/2022, \u00a722\/2022, \u00a723\/2022, 28\u00a7\/2022, 29\u00a7\/2022, 30\u00a7\/2022, 31\u00a7\/2022, 32\u00a7\/2022, 38\u00a7\/2022, 40\u00a7\/2022, 42\u00a7\/2022, 1\u00a7\/2023, Central Finland Biobank 1-2017, BB_2021-0161, BB_2021-0169, BB_2021-0179, BB_2021-0170, BB_2022-0256, BB_2022-0262, BB22-0067, Decision allowing to continue data processing until 31st Aug 2024 for projects: BB_2021-0179, BB22-0067,BB_2022-0262, BB_2021-0170, BB_2021-0164, BB_2021-0161, and BB_2021-0169, and Terveystalo Biobank STB 2018001 and amendment 25th Aug 2020, Finnish Hematological Registry and Clinical Biobank decision 18th June 2021, Arctic biobank P0844: ARC_2021_1001.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}},{"value":"Study subjects in FinnGen provided informed consent for biobank research, based on the Finnish Biobank Act. 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