Abstract

The study was aimed to explore whether the TERT and TERC polymorphisms are associated with the lung cancer risk. Five TERC and TERT polymorphisms were genotyped from 554 lung cancer patients and 603 healthy controls. We used χ2 test, genetic model, linkage disequilibrium (LD) and haplotype analyses to evaluate the association between the polymorphisms and lung cancer risk. We found that the allele “C” of rs10936599 (TERC) and the allele “T” of rs10069690 (TERT) were associated with increased risk of lung cancer (OR = 1.32, 95% CI: 1.12-1.55, P = 0.001; OR = 1.41, 95% CI: 1.14-1.76, P = 0.002, respectively). The genotype of “CC” of rs10936599, genotype “CT” of rs10069690 and genotype “GG and “AG” of rs2853677 were also associated with increased the risk of lung cancer. In addition, rs10936599 under the dominant, recessive and log-additive models; rs10069690 under the dominant, overdominant and log-additive models; rs2853677 under the dominant and log-additive models were found to be associated with increased lung cancer risk. The SNP rs2242652 was found to be associated with an increased lung cancer risk under the dominant and overdominant models without adjustment. The haplotype “TA” of TERT was also associated with an increased risk of lung cancer. Our study indicated that rs10936599 (TERC) and rs10069690, rs2242652 and rs2853677 in TERT and haplotype “TA” of TERT were revealed as risk factors of lung cancer in a Chinese Han population. However, it required to verify our result and investigate the function genetic variants and mechanism of lung cancer.

Highlights

  • Lung cancer is a malignant tumor with high morbidity and mortality

  • We found that the haplotype “TA” of TERT was associated with a 1.32-fold increased the risk of lung cancer (OR = 1.32, 95% confidence intervals (CIs): 1.06 - 1.65, P = 0.019) (Table 4)

  • In the case-control study, we investigated the association between single nucleotide polymorphisms (SNPs) in TERC, TERT genes and www.impactjournals.com/oncotarget

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Summary

Introduction

Lung cancer is a malignant tumor with high morbidity and mortality. Lung cancer as the leading cause of cancer-related deaths caused occurred in 1.8 million people and resulted in 1.6 million deaths worldwide in2012 [1]. Lung cancer is a malignant tumor with high morbidity and mortality. It was reported that lung cancer is the highest incidence of malignant tumors in China with the annual new cases about 705,000 [2]. Www.impactjournals.com/oncotarget not all people with these risk factors develop lung cancer. About 8% of lung cancer is due to inherited factors [5]. Previous studies have identified multiple susceptibility polymorphisms in some genes that are associated with the risk of lung cancer, such as TERT [6, 7], TP63 [8] CLPTM1L [9, 10], PSMA4 [11], CHRNA3 [12], CHRNA5 [13], CRP and GPC5 [14], and so on

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