Novel Genetic Risk Variants Associated with Oral Tongue Squamous Cell Carcinoma
Nikkilä, Rayan; Mäkitie, Antti; Joensuu, Heikki; Markkanen, Saara; Elenius, Klaus; Monni, Outi; Palotie, Aarno; Saarentaus, Elmo; FinnGen; Salo, Tuula; Bizaki-Vallaskangas, Argyro (2025-04-25)
Springer
25.04.2025
Nikkilä, R., Mäkitie, A., Joensuu, H. et al. Novel Genetic Risk Variants Associated with Oral Tongue Squamous Cell Carcinoma. Head and Neck Pathol 19, 45 (2025). https://doi.org/10.1007/s12105-025-01784-0.
https://creativecommons.org/licenses/by/4.0/
© The Author(s) 2025. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
https://creativecommons.org/licenses/by/4.0/
© The Author(s) 2025. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
https://creativecommons.org/licenses/by/4.0/
Julkaisun pysyvä osoite on
https://urn.fi/URN:NBN:fi:oulu-202504282960
https://urn.fi/URN:NBN:fi:oulu-202504282960
Tiivistelmä
Abstract
Purpose
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.
Methods
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 = 407,067). A Phenome-wide association study (PheWAS) was performed for the lead variants to assess their co-associations with other cancers.
Results
GWAS 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 × 10–7), and seborrheic keratosis (OR = 1.11, p = 1.51 × 10–11). A co-directional effect with melanoma was also observed (OR = 0.93, p = 6.24 × 10–5).
Conclusion
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.
Purpose
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.
Methods
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 = 407,067). A Phenome-wide association study (PheWAS) was performed for the lead variants to assess their co-associations with other cancers.
Results
GWAS 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 × 10–7), and seborrheic keratosis (OR = 1.11, p = 1.51 × 10–11). A co-directional effect with melanoma was also observed (OR = 0.93, p = 6.24 × 10–5).
Conclusion
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.
Kokoelmat
- Avoin saatavuus [37920]
Ellei muuten mainita, aineiston lisenssi on https://creativecommons.org/licenses/by/4.0/