Our result demonstrates for the first time that the Exo 1 T439M polymorphism does not have a major role in genetic susceptibility to hepatocarcinogenesis, at least in the population studied here.
A cytosine (C)/thymine (T) common single nucleotide polymorphism (SNP) at second position of codon 439 in exon 10 of Exo 1 determines a threonine (Thr, T) to methionine (Met, M) (T439M) aminoacidic substitution which may alter cancer risk by influencing the activity of Exo 1 protein.
No statistically significant differences were found in the allele or genotype distributions of the Exo 1 T439M polymorphism among HCC and cancer-free control subjects (P>0.05).
A cytosine (C)/thymine (T) common single nucleotide polymorphism (SNP) at second position of codon 439 in exon 10 of Exo 1 determines a threonine (Thr, T) to methionine (Met, M) (T439M) aminoacidic substitution which may alter cancer risk by influencing the activity of Exo 1 protein.
We investigated the relationship of single nucleotide polymorphisms (SNPs) at exon 10 (T439M) and exon 13 (P757L) of the EXO1 gene with development, progression and metastasis of colorectal cancer.
For T439M, the Thr/Met genotype [odds ratio (OR) = 2.03, 95% confidence interval (CI) 1.04-3.98] and Thr/Met and Met/Met genotypes combined (OR = 2.37, 95% CI 1.23-4.56) demonstrated significant association with the development of colorectal cancer after adjusting for age, gender and smoking status.
For T439M, the Thr/Met genotype [odds ratio (OR) = 2.03, 95% confidence interval (CI) 1.04-3.98] and Thr/Met and Met/Met genotypes combined (OR = 2.37, 95% CI 1.23-4.56) demonstrated significant association with the development of colorectal cancer after adjusting for age, gender and smoking status.