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Background <p>Oral squamous cell carcinoma (OSCC) is associated with many risk factors but not all individuals who are exposed to the risk factors develop OSCC. This aspect warrants the need to understand the genetic susceptibility in presence of risk factors.</p> Methods <p>The study protocol has been registered with PROSPERO (CRD42023422519). The present study included the English-language literature published from January 2000 to April 2024. The articles were searched using keywords via Ovid platform through various databases. The odds ratio was considered as standard measure of outcome. Meta-analysis was carried out using random effects model with RevMan 5.4, establishing a 95% confidence interval and a significance threshold of <i>p</i> ≤ 0.05.</p> Results <p>Taiwan, China, India, and USA share the major bulk of studies. The subgroup analysis shows polymorphism in P53 gene in presence of smoking (<i>Z</i> = 2.15, <i>p</i> = 0.02), alcohol (<i>Z</i> = 2.38, <i>p</i> = 0.02) and mixed habit (tobacco + alcohol) (<i>Z</i> = 3.28, <i>p</i> ≤ 0.001) and CASP 8 (<i>Z</i> = 5.38, <i>p</i> ≤ 0.0001) in presence of alcohol consumption habit has highly significant risk for development of OSCC; however the studies shows moderate heterogeneity (<i>I</i><sup>2</sup> = 40–50%). Certain genes such as HIF (<i>Z</i> = 2.82, <i>p</i> = 0.05), MTNR1 (<i>Z</i> = 12.12, <i>p</i> ≤ 0.0001) and DEC (<i>Z</i> = 10.46, <i>p</i> ≤ 0.0001) shows statistically significant correlation in presence of smoking and chewing habit with very low heterogeneity (<i>I</i><sup>2</sup> = 0%). The CYP1 gene shows a highly significant (<i>p</i> ≤ 0.0001) correlation (<i>Z</i> = 3.11) in presence of mixed habit with 0% heterogeneity.</p> Conclusions <p>Asian countries show a large cluster of patients with a genetic risk for development of OSCC. Genetic factors such as P53, CASP 8, HIF, DEC1, MTNR1 and CYP1A1 show statistically significant risk for development of OSCC in the presence of risky environmental factors such as tobacco and alcohol.</p>

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Assessment of genetic susceptibility in patients with oral squamous cell carcinoma: a systematic review and meta-analysis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月20日

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  • Kiran Jadhav,
  • Deepak G. S. Pateel,
  • Sonal Grover,
  • Shilpa Gunjal,
  • Srikant Natarajan,
  • Sumanth K. Nagraj

摘要

Background

Oral squamous cell carcinoma (OSCC) is associated with many risk factors but not all individuals who are exposed to the risk factors develop OSCC. This aspect warrants the need to understand the genetic susceptibility in presence of risk factors.

Methods

The study protocol has been registered with PROSPERO (CRD42023422519). The present study included the English-language literature published from January 2000 to April 2024. The articles were searched using keywords via Ovid platform through various databases. The odds ratio was considered as standard measure of outcome. Meta-analysis was carried out using random effects model with RevMan 5.4, establishing a 95% confidence interval and a significance threshold of p ≤ 0.05.

Results

Taiwan, China, India, and USA share the major bulk of studies. The subgroup analysis shows polymorphism in P53 gene in presence of smoking (Z = 2.15, p = 0.02), alcohol (Z = 2.38, p = 0.02) and mixed habit (tobacco + alcohol) (Z = 3.28, p ≤ 0.001) and CASP 8 (Z = 5.38, p ≤ 0.0001) in presence of alcohol consumption habit has highly significant risk for development of OSCC; however the studies shows moderate heterogeneity (I2 = 40–50%). Certain genes such as HIF (Z = 2.82, p = 0.05), MTNR1 (Z = 12.12, p ≤ 0.0001) and DEC (Z = 10.46, p ≤ 0.0001) shows statistically significant correlation in presence of smoking and chewing habit with very low heterogeneity (I2 = 0%). The CYP1 gene shows a highly significant (p ≤ 0.0001) correlation (Z = 3.11) in presence of mixed habit with 0% heterogeneity.

Conclusions

Asian countries show a large cluster of patients with a genetic risk for development of OSCC. Genetic factors such as P53, CASP 8, HIF, DEC1, MTNR1 and CYP1A1 show statistically significant risk for development of OSCC in the presence of risky environmental factors such as tobacco and alcohol.