Polymorphisms in the TERT gene are associated with lung cancer risk in the Chinese Han population.

Lung cancer has the highest mortality rate among cancers; however, its nosogenesis is still unclear. Genome-wide association studies have shown that the telomerase reverse transcriptase (TERT) gene, located in the chromosome 5p15.33 region, is one of the genes associated with the risk of lung cancer. In this case-control study, we genotyped 11 tag single-nucleotide polymorphisms of the TERT gene to evaluate their association with lung cancer risk in the Han Chinese population. Two tag single-nucleotide polymorphisms were found to be associated with lung cancer risk on using the χ2-test: rs4246742 [odds ratio (OR)=0.77, 95% confidence interval (CI) 0.60-0.98; P=0.03] and rs2853672 (OR=1.26, 95% CI 1.01-1.57; P=0.045). By using SNPStats software we also found rs2242652 (OR=1.47, 95% CI 1.02-2.13; P=0.04) in the dominant model and rs2736098 (OR=1.38, 95% CI 1.06-1.80; P=0.017), rs2853672 (OR=1.41, 95% CI 1.11-1.80; P=0.0048), and rs4246742 (OR=0.75, 95% CI 0.58-0.97; P=0.029) in the log-additive model. 'T/C-T/T' of rs10069690 conferred an increased risk for male sex in the dominant model (OR=1.80, 95% CI, 1.05-3.08; P=0.03) and 'TC' increased risk for male sex in the overdominant model (OR=1.85, 95% CI, 1.08-3.17; P=0.031). Our findings, combined with previous studies, suggest that polymorphisms in the TERT gene contribute to the risk for lung cancer in the Chinese Han population.