Abstract
BackgroundThe TERT gene is the reverse transcriptase component of telomerase and is essential for the maintenance of telomere DNA length, chromosomal stability and cellular immortality. CLPTM1L gene encodes a protein linked to cisplatin resistance, and it is well conserved and express in various normal or malignant tissues, including lung.MethodsTo test this hypothesis, we genotyped for two significant SNPs TERT-rs2736098 and CLPTM1L-rs4016981 in a case-control study with 501 cancer cases and 576 cancer-free controls in Chinese nonsmoking population. Information concerning demographic and risk factors was obtained for each case and control by a trained interviewer. Gene polymorphisms were determined by TaqMan methodology.ResultsWe found that the homozygous variant genetic model of TERT gene was associated with a significantly increased risk of lung cancer with adjusted OR of 1.72(95%CI = 1.19–2.51, P = 0.004 for heterogeneity). The joint effect of TERT and CLPTM1L increased risk for lung cancer with adjusted OR is 1.31(95%CI = 1.00–1.74, P = 0.052 for heterogeneity).ConclusionGenetic variants in TERT and CLPTM1L may affect the susceptibility of lung cancer, especially adenocarcinoma in Chinese women nonsmokers.
Highlights
The TERT gene is the reverse transcriptase component of telomerase and is essential for the maintenance of telomere DNA length, chromosomal stability and cellular immortality
Previous study showed the evidence that associations of genotype polymorphisms with lung cancer risk could be confounded by gender or smoking [3]
The observed genotype frequencies among the control subjects were both in agreement with that expected under the HardyWeinberg equilibrium (p2+2pq+q2 = 1, P = 0.065 for rs2736098 and 0.463 for rs401681)
Summary
The TERT gene is the reverse transcriptase component of telomerase and is essential for the maintenance of telomere DNA length, chromosomal stability and cellular immortality. The latest studies pay attention to telomerase reverse transcriptase(TERT), cleft lip and palate transmembrane 1-like(CLPTM1L) gene variation which locus at chromosome 5p15.33. Many genome-wide association studies(GWAS) of cancer have been reported and provided that the TERT-CLPTM1L genomic region associated the risk of lung cancer. The main of cases and controls were cigarette smokers that made it difficult to judge whether these genes were associated with lung cancer or tobacco use [1]. Previous study showed the evidence that associations of genotype polymorphisms with lung cancer risk could be confounded by gender or smoking [3]. We conducted a genome-wide association study in never-smoking females in Chinese Han population
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