TP53 Intronic Polymorphisms and Risk of Esophageal Cancer in Southern Thai Population
TP53 Intronic Polymorphism and Esophageal Cancer
Keywords:esophageal cancer, intronic variation, risk TP53, polymorphism
Objective: The study aimed to determine the frequency of intron 3 16 base pair (bp) duplication polymorphism and intron 6 G to C substitution (G>C) of the TP53 gene and to evaluate the association these two intronic variants with the risk of esophageal cancer (EC).
Material and Methods: A case-control study was conducted to evaluate the frequency and association of cancer. Cases were patients with squamous cell carcinoma of esophagus and controls were age and sex-matched non-cancer patients. Blood samples were also obtained from healthy blood donors. Polymerase chain reaction (PCR) was used to detect intron 3 16 bp duplication and PCR-restriction fragment length polymorphism was applied to detect intron 6 G>C. Logistic regression was used for the analysis.
Results: Heterozygous intron 3 16 bp duplication (Del/Ins) was found in 10.1% (31/308) of blood donors, 9.3% (28/302) of controls and 8.6% (26/301) of EC cases. Intron 6 G>C was found in 0.3% (1/308) of blood donors, in 2.6% (8/310) of controls and 3.9% (12/307) of EC cases. Both variants displayed no significant association with risk of esophageal cancer (odd ratio (OR) = 1.16 [95% confidence interval (CI) = 0.64–2.11] for intron 3 16 bp duplication and OR = 0.81 [95% CI = 0.47-4.61] for intron 6 G>C.
Conclusion: Southern Thai population have low frequency of intron 3 16 bp duplication polymorphism and intron 6 G>C variant, both of which are not likely to be associated with esophageal cancer susceptibility.
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