HLA-DQB1*05:02: A Novel Genetic Marker for Susceptibility to Oral Cavity Squamous Cell Carcinoma

IF 2.9 2区医学 Q2 ONCOLOGY

Cancer Medicine Pub Date : 2025-04-15 DOI:10.1002/cam4.70876

Shiang-Fu Huang, Huei-Tzu Chien, Chi-Kuang Young, Yun-Shien Lee, Chun-Ta Liao, Kai-Lun Cho, Ching-Han Chen, Angel Chao

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Abstract

Introduction

Environmental exposure to carcinogens causes mucosal damage in the upper aerodigestive tract and can lead to cancers. The susceptibility to carcinogens varies between individuals. To identify susceptibility genes in head and neck cancers, we enrolled patients with early-onset disease and analyzed them by genome-wide association study.

Methods and Materials

This case–control study included 54 young male patients with oral squamous cell carcinoma (OSCC) who were treated between March 1996 and December 2016, as well as 2400 healthy controls. A single nucleotide polymorphism (SNP) array was used to determine genetic loci that increase susceptibility to OSCC. In another validation cohort, sequencing-based typing (TBG Biotechnology Corp., Taipei, Taiwan) was used to determine the HLA-DQB1 genotype in another 100 OSCC patients.

Results

We analyzed the allele frequencies of 664,994 autosomal SNPs in 54 OSCC cases. In a genome-wide association analysis, four SNPs on chromosomes 6, 7, 9, and 12 were significantly different between OSCC patients and controls (corrected p < 1.0 × 10⁻⁶). HLA-DQB1 was closest to rs28451423 on chromosome 6. In the validation cohort, HLA-DQB1*05:02 in OSCC (18.5%) was significantly different from the normal population (7.0%) (p = 0.009). The influence of disease onset was independently significant after adjusting smoking, alcohol drinking, and areca-quid chewing (p = 0.015, OR: 3.922, 95% confidence interval: 1.311–11.734). Furthermore, HLA-DQB1*05:02 was associated with early-onset OSCC (p = 0.004).

Conclusion

HLA-DQB1*05:02 increases individuals' risks of OSCC independent of environmental exposures, particularly in cases of early-onset OSCC. This study provides a genetic basis and disease marker for personalized prevention of OSCC.

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HLA-DQB1*05:02：口腔鳞状细胞癌易感性的新型遗传标记物

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来源期刊

Cancer Medicine ONCOLOGY-

CiteScore

5.50

自引率

2.50%

发文量

907

审稿时长

19 weeks

期刊介绍： Cancer Medicine is a peer-reviewed, open access, interdisciplinary journal providing rapid publication of research from global biomedical researchers across the cancer sciences. The journal will consider submissions from all oncologic specialties, including, but not limited to, the following areas: Clinical Cancer Research Translational research ∙ clinical trials ∙ chemotherapy ∙ radiation therapy ∙ surgical therapy ∙ clinical observations ∙ clinical guidelines ∙ genetic consultation ∙ ethical considerations Cancer Biology: Molecular biology ∙ cellular biology ∙ molecular genetics ∙ genomics ∙ immunology ∙ epigenetics ∙ metabolic studies ∙ proteomics ∙ cytopathology ∙ carcinogenesis ∙ drug discovery and delivery. Cancer Prevention: Behavioral science ∙ psychosocial studies ∙ screening ∙ nutrition ∙ epidemiology and prevention ∙ community outreach. Bioinformatics: Gene expressions profiles ∙ gene regulation networks ∙ genome bioinformatics ∙ pathwayanalysis ∙ prognostic biomarkers. Cancer Medicine publishes original research articles, systematic reviews, meta-analyses, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented in the paper.