Abstract
BackgroundEsophageal cancer was the fifth most commonly diagnosed cancer and the fourth leading cause of cancer-related death in China in 2009. Esophageal squamous cell carcinoma (ESCC) accounts for more than 90 percent of esophageal cancers. Genetic factors probably play an important role in the ESCC carcinogenesis.MethodsWe conducted a hospital based case-control study to evaluate functional hTERT rs2736098 G>A and TERT-CLPTM1L rs401681 C>T single nucleotide polymorphisms (SNPs) on the risk of ESCC. Six hundred and twenty-nine ESCC cases and 686 controls were recruited. Their genotypes were determined using the ligation detection reaction (LDR) method.ResultsWhen the TERT-CLPTM1L rs401681 CC homozygote genotype was used as the reference group, the CT genotype was associated with a significantly decreased risk of ESCC (adjusted OR = 0.74, 95% CI = 0.58–0.94, p = 0.012); the CT/TT variants were associated with a 26% decreased risk of ESCC (adjusted OR = 0.74, 95% CI = 0.59–0.93, P = 0.009). The significantly decreased risk of ESCC associated with the TERT-CLPTM1L rs401681 C>T polymorphism was associated with male sex, young age (<63 years in our study) and alcohol consumption. No association between the hTERT rs2736098 G>A polymorphism and ESCC risk was observed.Conclusion TERT-CLPTM1L rs401681 CT and CT/TT genotypes were associated with decreased risk of ESCC, particularly among men, young patients and those reported to be drinkers. However, our results are preliminary conclusions. Larger studies with more rigorous study designs are required to confirm the current findings.
Highlights
Esophageal cancer was the fifth most commonly diagnosed cancer and the fourth leading cause of cancer-related death in China in 2009 [1]
When the TERT-CLPTM1L rs401681 CC homozygote genotype was used as the reference group, the TT genotype was not associated with the risk for Esophageal squamous cell carcinoma (ESCC) (TT vs CC: adjusted OR = 0.75, 95% CI = 0.51–1.09, P = 0.126)
The TERT-CLPTM1L rs401681 CT/TT variants were associated with a 26% decreased risk of ESCC, compared with the TERTCLPTM1L rs401681 CC genotype
Summary
Esophageal cancer was the fifth most commonly diagnosed cancer and the fourth leading cause of cancer-related death in China in 2009 [1]. Several genome-wide association studies (GWAS) reported that common polymorphisms of Telomerase reverse transcriptase-cleft lip and palate transmembrane 1 like, CLPTM1L (TERT-CLPTM1L), which is located at locus 5p15.33, were associated with the risk of many types of cancer [5,6]. The TERT-CLPTM1L SNP, rs401681 (C.T, located in intron 13 of CLPTM1L, 27 kb from the TERT gene), is one of the most extensively studied SNPs. Two variants in 5p15 (rs401681 and rs2736098) are significantly associated with bladder cancer in individuals of European ancestry. Two variants in 5p15 (rs401681 and rs2736098) are significantly associated with bladder cancer in individuals of European ancestry These variants are in linkage disequilibrium (LD) with CLPTM1L and TERT, and both variants are associated with basal cell carcinoma [6], lung cancer [7], glioma [8] and other tumors [6]. Genetic factors probably play an important role in the ESCC carcinogenesis
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