Genetic variations in TERT-CLPTM1L genes and risk of lung cancer in a Chinese population.

Meng-Meng Zhao,Zhi-Hua Yin,Li Shen,Bao-Sen Zhou,Xue-Lian Li,Yue Zhang,Yang-Wu Ren

doi:10.7314/apjcp.2014.15.6.2809

Meng-Meng Zhao, Zhi-Hua Yin + Show 5 more

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https://doi.org/10.7314/apjcp.2014.15.6.2809

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Abstract

This study was conducted to investigate the association between single nucleotide polymorphisms (SNPs) in telomerase reverse transcriptase (TERT) and cleft lip and palate transmembrane1-like (CLPTM1L) and lung cancer risk in a Chinese population. We performed a hospital-based case-control study, including 980 lung cancer cases and 1000 cancer-free controls matched for age and sex. Each case and control was interviewed to collect information by well-trained interviewers. A total of 5 ml of venous blood was collected for genotype testing of TERT rs2736098 and CLPTM1L rs401681 using TaqMan methodology. The results revealed that the variant homozygote TERT rs2736098TT was associated with an increased risk of lung cancer (OR=2.017, 95%CI=1.518-2.681), especially lung adenocarcinoma (OR=2.117, 95%CI=1.557-3.043) and small cell carcinoma (OR=1.979, 95%CI: 1.174-3.334), compared with the TERT rs2736098CC genotype. Similar results were observed in non-smokers. The TERT rs2736098 polymorphism might affect the susceptibility to lung cancer in Chinese populations. The associations need to be verified in larger and different populations.

Highlights

In the worldwide, cigarette smoking has been established as a primarily environmental risk factor of lung cancer, but only a fraction of smokers develop lung cancer during their lifetime
The genotype frequencies among controls were both in agreement with Hardy-Weinberg equilibrium (HWE), P value is 0.365 for telomerase reverse transcriptase (TERT) rs2736098 and 0.502 for cleft lip and palate transmembrane1-like (CLPTM1L) rs401681, respectively
We investigated the association between genetic variants of TERT rs2736098 and CLPTM1L rs401681 and lung cancer, with a total of 980 Chinese cases included

Summary

Introduction

Cigarette smoking has been established as a primarily environmental risk factor of lung cancer, but only a fraction of smokers develop lung cancer during their lifetime. Genetic variants in telomerase reverse transcriptase (TERT) and cleft lip and palate transmembrane1-like (CLPTM1L) locus at chromosome 5p15.33 have been identified to be related to lung cancer by several genome-wide association studies (GWAS) (McKay et al, 2008; Wang et al, 2008; Rafnar et al, 2009; Miki et al, 2010; Yoon et al, 2010). Several studies have reported that the common polymorphisms of CLPTM1L are associated with the risk for development of various cancers, such as bladder cancer, skin cancer, lung cancer, breast cancer (Savage et al 2007; Wang et al, 2008; Gago-Dominguez et al, 2011; Nan et al, 2011). This study was conducted to investigate the association between single nucleotide polymorphisms (SNPs) in telomerase reverse transcriptase (TERT) and cleft lip and palate transmembrane1-like (CLPTM1L) and lung cancer risk in a Chinese population. The associations need to be verified in larger and different populations

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Results

Conclusion