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Objective <p>This study investigated the association between <i>p16</i> gene and its 450&#xa0;C &gt; G (rs11515) polymorphism with risk of oral cancer and precancerous oral lesions/oral potentially malignant disorder (OPMD).</p> Method <p>The study included 230 individuals with OPMD conditions (70 with leukoplakia, 90 with oral submucous fibrosis, and 70 with lichen planus), 72 oral cancer patients, and 300 cancer-free healthy controls. Genotyping of the <i>p16</i> 450&#xa0;C &gt; G polymorphism was conducted using PCR-RFLP methods, and genotype and allele frequencies were analyzed using chi-square test. Additionally, <i>p16</i> gene expression levels were measured using RT-PCR among oral cancer patients, those with OPMD, and healthy controls. RNA fold was used to calculate the MFE of <i>p16</i> mRNA.</p> Results <p>The findings revealed that G allele of <i>p16</i> 450&#xa0;C &gt; G polymorphism significantly increased risk of oral diseases (oral cancer and OPMD) compared to C allele (OR 1.67, <i>p</i> = 0.0001). GG genotype was associated with higher risk of oral submucous fibrosis (OR 4.63, <i>p</i> = 0.0001), lichenplanus (OR 3.93, <i>p</i> = 0.0002), and leukoplakia (OR 2.38, <i>p</i> = 0.02) compared to CC genotype. Smokers and tobacco chewers carrying the G allele were at a significantly increased risk of developing OPMD (OR = 3.78 and 2.89). Notably, <i>p16</i> transcript expression was significantly elevated (13.56-fold) in oral cancer patients compared to healthy controls. According to insilco analysis G allele gives more stable transcript of <i>p16</i> (MEF − 64.90&#xa0;kcal/mol) compared to C allele (MFE − 61.70&#xa0;kcal/mol).</p> Conclusion <p>These findings suggest that <i>p16</i> gene and its 450&#xa0;C &gt; G polymorphism may be associated with risk of oral diseases, indicating their potential utility as biomarkers for these conditions.</p>

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Single nucleotide polymorphism and expression of P16 gene as a potential biomarker for oral and pre-oral cancer

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年7月1日

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  • Kumud Nigam,
  • Yogendra Verma,
  • Manish Raj Kulshrestha,
  • Aditi Singh,
  • Somali Sanyal

摘要

Objective

This study investigated the association between p16 gene and its 450 C > G (rs11515) polymorphism with risk of oral cancer and precancerous oral lesions/oral potentially malignant disorder (OPMD).

Method

The study included 230 individuals with OPMD conditions (70 with leukoplakia, 90 with oral submucous fibrosis, and 70 with lichen planus), 72 oral cancer patients, and 300 cancer-free healthy controls. Genotyping of the p16 450 C > G polymorphism was conducted using PCR-RFLP methods, and genotype and allele frequencies were analyzed using chi-square test. Additionally, p16 gene expression levels were measured using RT-PCR among oral cancer patients, those with OPMD, and healthy controls. RNA fold was used to calculate the MFE of p16 mRNA.

Results

The findings revealed that G allele of p16 450 C > G polymorphism significantly increased risk of oral diseases (oral cancer and OPMD) compared to C allele (OR 1.67, p = 0.0001). GG genotype was associated with higher risk of oral submucous fibrosis (OR 4.63, p = 0.0001), lichenplanus (OR 3.93, p = 0.0002), and leukoplakia (OR 2.38, p = 0.02) compared to CC genotype. Smokers and tobacco chewers carrying the G allele were at a significantly increased risk of developing OPMD (OR = 3.78 and 2.89). Notably, p16 transcript expression was significantly elevated (13.56-fold) in oral cancer patients compared to healthy controls. According to insilco analysis G allele gives more stable transcript of p16 (MEF − 64.90 kcal/mol) compared to C allele (MFE − 61.70 kcal/mol).

Conclusion

These findings suggest that p16 gene and its 450 C > G polymorphism may be associated with risk of oral diseases, indicating their potential utility as biomarkers for these conditions.