Abstract
Colorectal cancer (CRC) is one of the most common diseases worldwide, and telomere length has been reported correlate with CRC. This study aimed to investigate whether polymorphisms of telomere length related genes are associated with susceptibility to CRC in Chinese Han population. 11 SNPs from TERT, TNIP1 and OBFC1 genes were selected and genotyped, in addition odds ratio (OR) and 95% confidence intervals (CI) were used to evaluate association between the SNPs and CRC risk in 247 patients clinically and 300 controls in a Chinese Han population. Our results showed that minor allele “G” of rs7708392 and minor allele “C” of rs10036748 in TNIP1 gene were significantly associated with an increased the CRC risk in genotype model, dominant model and additive model after Bonferroni's multiple adjusted (P<0.0011). Moreover, the two SNPs rs7708392 and rs10036748 were in strong linkage disequilibrium. We observed that the haplotype “G-C” was more frequent among CRC patients and associated with a 1.58-fold increased CRC risk (95%CI=1.17-2.13, P=0.003). Contrarily, haplotype “C-T” was associated with a 0.63-fold reduced CRC risk (95%CI=0.47-0.86, P=0.003). Additionally, SNPs in this study except rs7708392 and rs10036748 were found a modest connection with CRC risk. In conclusion, our study firstly provides evidence for a novel association between polymorphisms of telomere length related TNIP1 gene and CRC susceptibility in Chinese Han population, and the results need a further identification in a large sample size and other populations.
Highlights
Colorectal cancer (CRC) is the third most common type of cancer and the fourth common cause of cancer death worldwide [1]
Our results showed that minor allele “G” of rs7708392 and minor allele “C” of rs10036748 in TNIP1 gene were significantly associated with an increased the CRC risk in genotype model, dominant model and additive model after Bonferroni’s multiple adjusted (P
The results demonstrated that polymorphisms of rs7708392 and rs10039748 in TNIP1 had a significant influence on CRC susceptibility for the first time
Summary
Colorectal cancer (CRC) is the third most common type of cancer and the fourth common cause of cancer death worldwide [1]. In the United States, 160, 000 cases of CRC are diagnosed, and 57, 000 patients die per year because of CRC, making it the second leading cause of death from cancer [2]. It is essential to uncover the molecular basis of individual susceptibility to CRC, and to confirm the initiate factors of tumor development, progression and responsiveness. Study have revealed that progression accumulation of genetic and epigenetic alterations can lead to the malignant transformation of normal colonic epithelium, and genomic stability seems to be an crucial molecular in the early stage of cancer [3]. TERT, TNIP1 and OBFC1 genes have been reported associated with telomere length in genome wide association studies (GWAS) [6, 7]
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