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Background <p>Cervical cancer is a significant public health problem in India, with high-risk Human Papilloma Virus (HPV) infection recognized as a necessary but insufficient cause. The current research aimed to examine the correlation between <i>CYP1A1</i> gene polymorphisms—specifically m1 <i>(T3801C, rs4646903) &amp; m2 (A4889G, rs1048943)</i>—and the development of cervical cancer in a South Indian female population. The investigation was designed to determine whether these genetic variants function as potential risk markers for the development of invasive cervical cancer within this ethnically distinct cohort.</p> Methods <p>A cross-sectional study was conducted involving 40 Precancerous cases, 40 histologically confirmed cervical cancer cases and 80 healthy participants matched by age. DNA was isolated from cervical smears and Formalin-fixed, Paraffin-embedded tissues (FFPE). Genotyping for <i>CYP1A1 m1 (T</i> &gt; <i>C)</i> and <i>m2 (A</i> &gt; <i>G)</i> polymorphisms was conducted by PCR–RFLP. Statistical analysis included genotype and allele frequency associations with disease risk, using multivariable logistic regression to estimate adjusted odds ratios.</p> Results <p>Among the two gene variants in our study group, both <i>CYP1A1 m1</i> (OR = 36.97, 95% CI: 8.71–347.06; p &lt; 0.001) and <i>m2</i> (OR = 2.77, 95% CI: 1.08–7.52; p = 0.034) polymorphisms show a statistically significant association with an increased risk of precancer. However, neither polymorphism shows a significant relation to cervical cancer risk (OR = 0.66, 95% CI: 0.26–1.55; p = 0.343 for <i>m1</i>, and OR = 1.03, 95% CI: 0.44–2.34; p = 0.943 for <i>m2</i>).</p> Conclusion <p>Our findings demonstrate a significant association between the <i>CYP1A1 3801&#xa0;T</i> &gt; <i>C</i> and <i>CYP1A1 4889A</i> &gt; <i>G</i> polymorphisms and precancer susceptibility in the South Indian population, with the variant "<i>C</i>" allele of <i>CYP1A1 3801&#xa0;T</i> &gt; <i>C</i> emerging as a potential risk factor. These results suggest that genetic variation in <i>CYP1A1</i> may contribute to precancer and highlight the importance of population-specific genetic risk factors.</p>

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Molecular Epidemiological Analysis on CYP1A1 m1 (rs4646903) and m2 (rs1048943) Polymorphisms to Correlate Cancerous and Precancerous Lesions of Uterine Cervix

  • 期刊论文

  • 发表日期：

    2026年3月24日

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  • Santhi Venkatapathy,
  • Pratheepa Sivasankari Natarajan,
  • Sundarapandian Subramanian,
  • Malliga J. Subramanian,
  • Subash C. B. Gopinath

摘要

Background

Cervical cancer is a significant public health problem in India, with high-risk Human Papilloma Virus (HPV) infection recognized as a necessary but insufficient cause. The current research aimed to examine the correlation between CYP1A1 gene polymorphisms—specifically m1 (T3801C, rs4646903) & m2 (A4889G, rs1048943)—and the development of cervical cancer in a South Indian female population. The investigation was designed to determine whether these genetic variants function as potential risk markers for the development of invasive cervical cancer within this ethnically distinct cohort.

Methods

A cross-sectional study was conducted involving 40 Precancerous cases, 40 histologically confirmed cervical cancer cases and 80 healthy participants matched by age. DNA was isolated from cervical smears and Formalin-fixed, Paraffin-embedded tissues (FFPE). Genotyping for CYP1A1 m1 (T > C) and m2 (A > G) polymorphisms was conducted by PCR–RFLP. Statistical analysis included genotype and allele frequency associations with disease risk, using multivariable logistic regression to estimate adjusted odds ratios.

Results

Among the two gene variants in our study group, both CYP1A1 m1 (OR = 36.97, 95% CI: 8.71–347.06; p < 0.001) and m2 (OR = 2.77, 95% CI: 1.08–7.52; p = 0.034) polymorphisms show a statistically significant association with an increased risk of precancer. However, neither polymorphism shows a significant relation to cervical cancer risk (OR = 0.66, 95% CI: 0.26–1.55; p = 0.343 for m1, and OR = 1.03, 95% CI: 0.44–2.34; p = 0.943 for m2).

Conclusion

Our findings demonstrate a significant association between the CYP1A1 3801 T > C and CYP1A1 4889A > G polymorphisms and precancer susceptibility in the South Indian population, with the variant "C" allele of CYP1A1 3801 T > C emerging as a potential risk factor. These results suggest that genetic variation in CYP1A1 may contribute to precancer and highlight the importance of population-specific genetic risk factors.