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Abstract

ASSOCIATION OF ALU-ACE AND CYP1A1 WITH COLORECTAL CANCER

Ramesh Mandarapu*, Geethakumari Konathala and Pradeepthi Pemmaraju

ABSTRACT

Colorectal cancer (CRC) defined as the cancerous growths in the colorectal, rectum and appendix is also referred to as colorectal cancer or large bowel cancer. In the last two decades, studies have demonstrated that CRC cells undergo major epigenetic alterations. Among which, genetic variants in oncogenes have been extensively investigated as the essential role in cancer aetiology. The ACE I/D and CYP1A1 polymorphisms were detected by PCR-RFLP. Analysis of the data was carried out using Epi Info 5 software. Pooled odds ratios and relative risk were calculated by the random-effects method. Multifactor Dimensionality Reduction (MDR) analysis was performed to study case-control data and gene-gene interactions. Considering Alu-ACE, the inter group heterogeneity was found to be (χ² = 11.1576; d.f. =2; (0.01>p>0.001), significant value when observed between colorectal cancer patients and controls. Risk estimates show a significant association of ID phenotype (RR = 1.85), an increased risk of 85% and more, indicating that individuals with ID phenotype are 1.8 times more likely to get the disease when compared with the other phenotypes of the Alu-ACE polymorphism. Risk estimates show a significant association of m1m2 and m2m2 phenotypes with colorectal cancer individuals (RR = 1.23 and 1.36) respectively. In MDR analysis, the two-factor interaction model was the best model, which shows that there was an interaction between the two SNP’s (p≤0.01). This study concludes that I/D polymorphism in the ACE gene may confer the risk of colorectal cancer.

Keywords: Colorectal, Alu- ACE, CYP1A1, Polymorphism.


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