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Title

 Population-specific genomic risk markers for oral and maxillofacial malignancies in a high tobacco-exposure cohort from Eastern Uttar Pradesh, India

 

Authors

 Pavan Kumar Dubey1,*, Neelam Mittal2, Gyaneshwar Chaubey2, Rahul Agarwal3 & P.G Naveen1

 

Affiliation

1Department of Prosthodontics and Crown & Bridge, Faculty of Dental Sciences, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India; 2Department of Conservative & Endodontics, Faculty of Dental Sciences, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India; 3Department of Zoology, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India; *Corresponding author

 

Email

Pavan Kumar Dubey - E-mail: pavank.dubey1@bhu.ac.in; Phone: +91983862666
Neelam Mittal - E -mail: dr.neelammittal@gmail.com; Phone: +91 9415203360
Gyaneshwar Chaubey - E-mail: gyaneshwer.chaubey@bhu.ac.in; Phone: +91 9560375165
Rahul Agarwal - E -mail: rvs456@gmail.com; Phone: +91 9559676629
P.G Naveen - E -mail: pgnaveenkumar@gmail.com; Phone: +91 9482562631

 

Article Type

Research Article

 

Date

Received March 1, 2026; Revised March 31, 2026; Accepted March 31, 2026, Published March 31, 2026

 

Abstract

Oral squamous cell carcinoma (OSCC) dominates oral malignancies in Eastern Uttar Pradesh, India, driven by high smokeless tobacco use and late-stage presentations causing substantial mortality. Hence, this case-control study integrated mitochondrial DNA (mtDNA) profiling and whole exome sequencing (WES) in 98 participants (47 OSCC cases, 51 matched controls) from this high-burden region. mtDNA analysis revealed significant depletion of the 16223C polymorphism in cases (53.2% vs 90.2% controls; χ²=16.74, p=0.0001), indicating potential protective effects against OSCC development. WES identified case-enriched driver variants, including NOTCH1 p.R2156H (15.0% cases) and truncating FAT1 mutations (10.0% cases), highlighting key oncogenic pathways. These findings advance precision oncology by establishing population-specific genomic markers for risk-stratification and targeted prevention of tobacco-related OSCC in Northern India.

 

Keywords

Oral squamous cell carcinoma (OSCC); mitochondrial DNA polymorphisms (mtDNA); whole exome sequencing (WES); population-specific variants; tobacco-associated malignancy; eastern Uttar Pradesh

 

Citation

Dubey et al. Bioinformation 22(3): 1433-1439 (2026)

 

Edited by

Vini Mehta

 

ISSN

0973-2063

 

Publisher

Biomedical Informatics

 

License

This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.