The functional -94 insertion/deletion ATTG polymorphism in the promoter region of NFKB1 gene increases the risk of sporadic colorectal cancer

Objective: To investigate the allele and genotype frequencies of NFKB1 94 ins/del ATTG (rs28720239) polymorphism and to evaluate the association between the polymorphism and colorectal cancer (CRC) risk in Malaysian population. Methods: Genomic DNA was extracted from the peripheral blood samples of...

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Main Authors: Mohd Suzairi, Mohd Shafi’i, Tan, Shing Cheng, Ahmad Aizat, Abdul Aziz, Mohd Aminudin, Mustapha, Siti Nurfatimah, Mohd Shahpudin, Zakaria, Dzulkarnaen Andee, Ravindran, Ankathil
Format: Article
Language:English
Published: Elsevier Ltd. 2013
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Online Access:http://ir.unimas.my/id/eprint/25563/1/The%20functional%20-94%20insertion%20deletion%20ATTG%20polymorphism%20in%20the%20promoter%20-%20Copy.pdf
http://ir.unimas.my/id/eprint/25563/
https://www.sciencedirect.com/science/article/pii/S1877782113000945
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Summary:Objective: To investigate the allele and genotype frequencies of NFKB1 94 ins/del ATTG (rs28720239) polymorphism and to evaluate the association between the polymorphism and colorectal cancer (CRC) risk in Malaysian population. Methods: Genomic DNA was extracted from the peripheral blood samples of 474 study subjects, which consisted of 237 histopathologically confirmed CRC patients and an equal number of cancer-free controls. The NFKB1 94 ins/del ATTG (rs28720239) polymorphism was genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and confirmed by DNA sequencing. The association between the polymorphic genotypes and CRC risk was evaluated by deriving odds ratios (ORs) and 95% confidence intervals (CIs) using unconditional logistic regression analysis. Results: The frequencies of wildtype (del/del), heterozygous (del/ins) and variant (ins/ins) genotypes in CRC patients were 31.7%, 53.6% and 14.8%, respectively, while those in cancer-free controls were 35.0%, 58.2% and 6.8%, respectively. The frequency of the variant genotype was significantly higher in cases compared to controls (P < 0.01). Evaluation of the risk association of the polymorphic genotypes revealed that the variant genotype could contribute to a significantly increased risk of CRC (OR = 2.42, 95% CI = 1.24–4.73, P < 0.01). Conclusions: The variant allele of NFKB1 94 ins/del ATTG (rs28362491) polymorphism is associated with higher risk of sporadic CRC in Malaysian population.