Rs401681 polymorphism in TERT-CLPTM1L was associated with bladder cancer risk: A meta-analysis

Document Type : Original Article


1 Anhui Medical University, Hefei, Anhui, China (230032)

2 BGI-Shenzhen, Shenzhen, China (518000)

3 Department of Anatomy, School of Basic Medicine Science, Southern Medical University, Guangzhou, China (510000)

4 Department of Urology, Zhujiang Hospital, Southern Medical University, China

5 Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, China (510000)


Objective(s):Genome-wide association studies have identified a number of genetic variants of telomerase reverse transcriptase (TERT), cleft lip and palate transmembrane1-like (CLPTM1L) associated with the risk of bladder cancer. Rs401681 polymorphism in TERT-CLPTM1L was of special interest for bladder cancer risk, whereas the results were inconclusive.
Materials and Methods:Publications illustrating the association between rs401681 polymorphism and bladder cancer risk were collected from the Embase, PubMed and Google scholar. Three independent reviewers worked on the data extraction. The meta-analysis was performed by STATA 12.0. The odds ratio (OR) with 95% confidence interval (CI) was calcu‌lated for these data.
Results: Six case-control studies were retrieved reporting a total of 9196 bladder cancer patients and 42570 controls. The strength of the relevance between rs401681 polymorphism and bladder cancer risk was evaluated by Stata 12.0 software. Rs401681[C] allele was identified marginally                  associated with increased bladder cancer risk, with per allele OR of 1.132 (95% CI=1.080-1.187, Pheterogeneity=0.701); in the stratified analysis by ethnicity, the increased cancer risk was revealed in Asian and Caucasian groups. Moreover, we also revealed that rs401681 polymorphism was associated with an increased risk of bladder cancer in Asian population with three publications under allele model (OR=3.722, 95% CI=1.311-10.568, P=0.014), whereas a decreased risk was identified in homozygote model (OR=0.692, 95 % CI=0.513-0.934, P= 0.016) and recessive model (OR=0.728, 95% CI=0.541-0.980, P=0.036).                            
Conclusion: In summary, our study provided evidence that rs401681 polymorphism is associated with the risk of bladder cancer.


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