Evidence map›Paper›PMID 40278994›Full record

ArticleHead and neck pathology2025

Novel Genetic Risk Variants Associated with Oral Tongue Squamous Cell Carcinoma.

Rayan Nikkilä, Antti Mäkitie, Heikki Joensuu, Saara Markkanen, Klaus Elenius, Outi Monni, Aarno Palotie, Elmo Saarentaus, FinnGen, Tuula Salo and 1 more

Abstract read
In one paragraph

Article in Head and neck pathology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Rayan NikkiläDepartment of Otorhinolaryngology - Head and Neck Surgery, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.ORCID http://orcid.org/0000-0002-0999-2734
Antti MäkitieDepartment of Otorhinolaryngology - Head and Neck Surgery, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.ORCID http://orcid.org/0000-0002-0451-2404
Heikki JoensuuDepartment of Oncology, HUS Helsinki University Hospital and University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0003-0281-2507
Saara MarkkanenDepartment of Otolaryngology, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Klaus EleniusInstitute of Biomedicine, and MediCity Research Laboratory, University of Turku, Turku, Finland.ORCID http://orcid.org/0000-0001-5700-0827
Outi MonniDepartment of Oncology, HUS Helsinki University Hospital and University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-2319-8799
Aarno PalotieInstitute for Molecular Medicine Finland and the Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-2527-5874
Elmo SaarentausDepartment of Otorhinolaryngology - Head and Neck Surgery, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.ORCID http://orcid.org/0000-0002-8475-7187
FinnGen
Tuula SaloDepartment of Oral and Maxillofacial Diseases, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0001-6039-0088
Argyro Bizaki-VallaskangasDepartment of Otolaryngology, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland. argyro.bizaki-vallaskangas@tuni.fi.ORCID http://orcid.org/0000-0001-9484-0913

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeLimited 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.

methodsA 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 = 407,067). A Phenome-wide association study (PheWAS) was performed for the lead variants to assess their co-associations with other cancers.

resultsGWAS analysis identified three genome-wide significant loci associated with OTSCC (p < 5 × 10-8), 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 = 1.06, p = 5.41 × 10

conclusionThe 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.

Indexed as

Genetic Predisposition to DiseaseSquamous Cell Carcinoma of Head and NeckTongue NeoplasmsAgedFemaleGenome-Wide Association StudyHumansMaleMiddle AgedPolymorphism, Single NucleotideFinnGenGenetic variantGenome-wide associationSingle nucleotide polymorphismTongue cancer

Identifiers

PMID40278994
PMCPMC12031715

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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.