Department of Molecular Biology & Genetics, Krishna Vishwa Vidyapeeth "Deemed to be University", Taluka-Karad, Dist- Satara, Pin-415 539, (Maharashtra) India.
Krishna Institute of Allied Sciences, Krishna Vishwa Vidyapeeth "Deemed to be University", Taluka-Karad, Dist- Satara, Pin-415 539, (Maharashtra) India.
Asian Pac J Cancer Prev. 2024 Sep 1;25(9):3059-3065. doi: 10.31557/APJCP.2024.25.9.3059.
Cytochrome P450 (CYP) is a family phase I metabolizing enzymes important in xenobiotics metabolism. Genetic polymorphisms of CYPs have been comprehensively studied for their association with a range of diseases including cancer risk. In this study we assessed single nucleotide polymorphism (SNP) CYP2D6 and CYP2E1 genes and their role in gastrointestinal (GI) cancer susceptibility in the rural population of Maharashtra.
Genotyping of CYP2D64, CYP2E15B, CYP2E16, CYP2E17B genes among 200 GI cancer cases and equal number of controls was studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The Odds ratio (OR) with 95% confidence interval and p-value were evaluated to get the level of association of polymorphisms with risk of GI cancer, where p ≤0.005 was considered as statistically significant.
After the analysis of CYP2D6 and CYP2E1 gene polymorphisms, we noticed that CYP2D64 (rs3892097) with heterozygous genotype (G/C) showed negative association with GI cancer risk (OR=0.43, 95% CI: 0.25-0.74; p=0.002) and CYP2E16 (rs6413432) variant genotype showed positive association (OR=2.85, 95% CI: 1.40-5.81; p=0.003) showed positive association with GI cancer risk in studied population.
The findings obtained from this study concluded that the polymorphic CYP2D6 was negatively associated; however CYP2E1*6 polymorphism was significantly associated with GI cancer risk in studied population.
细胞色素 P450（CYP）是一种重要的 I 相代谢酶家族，参与外源性物质的代谢。CYP 的遗传多态性已被广泛研究，以探讨其与包括癌症风险在内的一系列疾病的相关性。在本研究中，我们评估了单核苷酸多态性（SNP）CYP2D6 和 CYP2E1 基因及其在马哈拉施特拉邦农村人群胃肠道（GI）癌症易感性中的作用。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对 200 例 GI 癌症病例和等量对照的 CYP2D64、CYP2E15B、CYP2E16、CYP2E17B 基因进行基因分型。采用优势比（OR）及其 95%置信区间和 p 值评估多态性与 GI 癌症风险的关联程度，p≤0.005 认为具有统计学意义。
分析 CYP2D6 和 CYP2E1 基因多态性后，我们注意到 CYP2D64（rs3892097）杂合基因型（G/C）与 GI 癌症风险呈负相关（OR=0.43，95%CI：0.25-0.74；p=0.002），而 CYP2E16（rs6413432）变异基因型则呈正相关（OR=2.85，95%CI：1.40-5.81；p=0.003），与研究人群的 GI 癌症风险呈正相关。
本研究得出的结论是，多态性 CYP2D6 呈负相关，而 CYP2E1*6 多态性与研究人群的 GI 癌症风险显著相关。
