Miniatura

Fitxers

s41467-025-63842-z.pdf (4.52 MB)

Tipus de document

Article

Versió

Versió publicada

Data de publicació

2025-10-02

Llicència de publicació

cc-by (c) Ebrahimi, Elmira et al., 2025
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/224145

Cross-ancestral GWAS identifies 29 variants across head and neck cancer subsites

Títol de la revista

Autors

Director/Tutor

ISSN de la revista

Títol del volum

Recurs relacionat

https://doi.org/10.1038/s41467-025-63842-z

Resum

Head and neck squamous cell carcinoma (HNSCC) includes diverse cancers arising in the oral cavity, oropharynx, and larynx, with the main risk factors being environmental exposures such as tobacco, alcohol, and human papillomavirus (HPV) infection. The genetic factors contributing to susceptibility across different populations and tumour subsites remain incompletely understood. Here we show, through a genome-wide association and fine mapping study of over 19,000 HNSCC cases and 38,000 controls from multiple ancestries, 18 genetic risk variants and 11 signals from fine mapping of the human leukocyte antigen (HLA) region, all previously unreported. rs78378222, a regulatory variant for TP53 is associated with a 40% reduction in overall HNSCC risk. We also identify gene-environment interactions, with BRCA2 and ADH1B variants showing effects modified by smoking and alcohol use. Subsite-specific analysis of the HLA region reveals distinct immune-related associations across HPV-positive and HPV-negative tumours. These findings refine the genetic architecture of HNSCC and highlight mechanisms linking inherited variation, immunity, and environmental exposures.

Matèries

Càncer de boca, Epidemiologia genètica, Càncer de coll

Matèries (anglès)

Oral cancer, Genetic epidemiology, Neck cancer

Citació

Col·leccions

Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citació

EBRAHIMI, Elmira, SANGPHUKIEO, Apiwat, PARK, Hanla a., GABORIEAU, Valerie, FERREIRO IGLESIAS, Aida, DIERGAARDE, Brenda, AHRENS, Wolfgang, ALEMANY, Laia, ARANTES, Lidia mrb, BETKA, Jaroslav, BRATMAN, Scott v., CANOVA, Cristina, CONLON, Michael sc, CONWAY, David i., CUELLO, Mauricio, CURADO, Maria paula, CARVALHO, Ana carolina de, OLIVIERA, Jose carlos de, GORMLEY, Mark, HADJI, Maryam, HARGREAVES, Sarah, HEALY, Claire m., HOLCÁTOVÁ, Ivana, HUNG, Rayjean j., KOWALSKI, Luis p., LAGIOU, Pagona, LAGIOU, Areti, LIU, Geoffrey, MACFARLANE, Gary j., OLSHAN, Andrew f., PERDOMO, Sandra, RIBIERO PINTO, Luis felipe, POLESEL, Jerry, PRING, Miranda, RASHIDIAN, Hamideh, GAMA, Ricardo r., RICHIARDI, Lorenzo, ROBINSON, Max, RODRIGUEZ URREGO, Paula a., SANTI, Stacey a., SAUNDERS, Deborah p., SOARES LIMA, Sheila c., TIMPSON, Nicholas j., VILENSKY, Marta, ZEIDLER, Sandra v. von, WATERBOER, Tim, ZENDEHDEL, Kazem, ZNAOR, Ariana, BRENNAN, Paul, Headspace Consortium, MCKAY, James d., VIRANI, Shama, DUDDING, Tom, DIAS, Tauana c.. Cross-ancestral GWAS identifies 29 variants across head and neck cancer subsites. _Nature Communications_. 2025. Vol. 16, núm. 8787. [consulta: 25 de febrer de 2026]. ISSN: 2041-1723. [Disponible a: https://hdl.handle.net/2445/224145]

Exportar metadades

JSON - METS

Compartir registre