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<p>Breast cancer is a complex disorder influenced by various genetic factors, including the <i>C677T</i> variant of the <i>MTHFR</i> gene and the <i>T3801C</i> variant of the <i>CYP1A1</i> gene among different populations. This study is aimed to evaluate the association between the <i>C677T</i> and <i>T3801C</i> polymorphisms and the risk of breast cancer amongst the women population from the state of Haryana, India. A case–control study was conducted with 200 participants (100 cases and 100 controls) sampled from the Maharishi Markandeshwar Institute of Medical Sciences. Ethical approval was obtained, and informed consent was secured from all participants. Blood samples were collected for DNA extraction and genotyping using standard methods. Statistical analyses included t-tests and odds ratios to evaluate associations between genetic variants and breast cancer risk. The mean age of cases was 55.05 ± 11.37&#xa0;years, while controls were 52.64 ± 4.87&#xa0;years, with no significant age difference (<i>p</i> &gt; 0.05). The <i>C677T</i> variant showed no significant associations across genetic models (allele: 1.51 [0.88–2.62], <i>p</i>-value = 0.13). In contrast, the <i>CYP1A1</i> variant i.e., T3081C exhibited significant associations in multiple genetic models (allele: 3.00 [1.80–5.00], <i>p</i>-value &lt; 0.0001) indicating its potential role in breast cancer susceptibility. The findings highlight the importance of genetic factors in breast cancer risk among the Haryana population. While the <i>C677T</i> variant did not show significant associations, the <i>CYP1A1</i> variant may be a crucial indicator of susceptibility, warranting further investigation into these genetic influences.</p>

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Genetic association of C677T in MTHFR and T3801C in CYP1A1 with the risk of breast cancer in the North Indian population: a case–control study

  • 期刊论文

  • 发表日期：

    2025年4月12日

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  • Ishan Behlam,
  • Amrit Sudershan,
  • Shikha Bharti,
  • Adesh K. Saini,
  • Sunita Manhas,
  • Surbhi Pathania,
  • Mohd Younis,
  • Rachna Sabharwal,
  • Pawan Kumar,
  • Parvinder Kumar

摘要

Breast cancer is a complex disorder influenced by various genetic factors, including the C677T variant of the MTHFR gene and the T3801C variant of the CYP1A1 gene among different populations. This study is aimed to evaluate the association between the C677T and T3801C polymorphisms and the risk of breast cancer amongst the women population from the state of Haryana, India. A case–control study was conducted with 200 participants (100 cases and 100 controls) sampled from the Maharishi Markandeshwar Institute of Medical Sciences. Ethical approval was obtained, and informed consent was secured from all participants. Blood samples were collected for DNA extraction and genotyping using standard methods. Statistical analyses included t-tests and odds ratios to evaluate associations between genetic variants and breast cancer risk. The mean age of cases was 55.05 ± 11.37 years, while controls were 52.64 ± 4.87 years, with no significant age difference (p > 0.05). The C677T variant showed no significant associations across genetic models (allele: 1.51 [0.88–2.62], p-value = 0.13). In contrast, the CYP1A1 variant i.e., T3081C exhibited significant associations in multiple genetic models (allele: 3.00 [1.80–5.00], p-value < 0.0001) indicating its potential role in breast cancer susceptibility. The findings highlight the importance of genetic factors in breast cancer risk among the Haryana population. While the C677T variant did not show significant associations, the CYP1A1 variant may be a crucial indicator of susceptibility, warranting further investigation into these genetic influences.