Abstract

Introduction: Colorectal cancer (CRC) heritability is determined by the composite relations between inherited variants and environmental factors. In developing countries like India, the incidence rates of CRC are especially increasing. In this study, we have focused on the distribution of the FOXO3 gene polymorphisms among the patients with CRC in North India. Methods: A case-control study was conducted on 487 CRC patients and 487 age-matched controls. We genotyped single-nucleotide polymorphisms rs2253310 and rs4946936 through polymerase chain reaction (PCR)-restriction fragment length polymorphism analysis and PCR-single-stranded conformation polymorphism procedure followed by sequence detection. Results: A significantly increased risk of CRC was observed for the CC genotype of the rs4946936 polymorphism compared to the TT genotype (p = 0.02; odd ratio [OR] = 1.40, confidence interval [CI] = 1.05–1.87). GT haplotype appeared to be a “risk” haplotype (OR = 1.71, 95% CI = 0.82–2.19), while as other haplotypes CC (OR = 0.83, 95% CI = 0.32–1.54), CT (OR = 0.75, 95% CI = 0.25–1.01), and GC (OR = 0.98, 95% CI = 0.88–1.14) were found to be “protective” for developing CRC. Conclusion: This study suggests an association of increased risk of CRC with the rs4946936 polymorphism but not with the rs2253310 polymorphism.

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