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Medical Oncology
Published in: Medical Oncology 7/2014

01-07-2014 | Original Paper

Genetic polymorphisms of TERT and CLPTM1L and risk of lung cancer: a case–control study in northeast Chinese male population

Authors: Yue Zhang, Mengmeng Zhao, Li Shen, Yangwu Ren, Lingyan Su, Xuelian Li, Zhihua Yin, Baosen Zhou

Published in: Medical Oncology | Issue 7/2014

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Abstract

Recently, some genome-wide association studies have implicated telomerase reverse transcriptase (TERT) and cleft lip and palate transmembrane 1-like gene (CLPTM1L) in lung cancer development. Here, we present a case–control study that evaluates the genetic effects of TERT-rs2736098 and CLPTM1L-rs401681 variants on the risk of lung cancer development in a Chinese male population. We found that the homozygous variant genetic model of the TERT gene was associated with a significantly increased risk of lung cancer with an adjusted odds ratio (OR) of 1.988. The TERT-rs2736098 T allele was also associated with increased lung cancer risk both in adenocarcinoma and squamous cell carcinoma. No association was found between CLPTM1L-rs401681 and lung cancer risk. However, the joint effect of TERT and CLPTM1L variants increased the risk of lung cancer, especially squamous cell carcinoma, with an adjusted OR of 3.274. However, the exact functional effect of these two variant genes remains unclear, and further investigation is needed in the future.
Literature
1.
Ferlay J, Shin HR, Bray F, et al. Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int J Cancer. 2010;127:2893–917.PubMedCrossRef
2.
3.
4.
5.
Broderick P, Wang Y, Vijayakrishnan J, et al. Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. Cancer Res. 2009;69:6633–41.PubMedCentralPubMedCrossRef
6.
Hu Z, Wu C, Shi Y, et al. A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese. Nat Genet. 2011;43:792–6.PubMedCrossRef
7.
Landi MT, Chatterjee N, Yu K, et al. A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am J Hum Genet. 2009;85:679–91.PubMedCentralPubMedCrossRef
8.
9.
Rafnar T, Sulem P, Stacey SN, et al. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet. 2009;41:221–7.PubMedCrossRef
10.
Sambrook J. Molecular Cloning: A Laboratory Manual. New York: Cold Spring Harbor Laboratory Press; 1989.
11.
Livak KJ. Allelic discrimination using fluorogenic probes and the 5′ nuclease assay. Genet Anal. 1999;14:143–9.PubMedCrossRef
12.
Choi JE, Kang HG, Jang JS, et al. Polymorphisms in telomere maintenance genes and risk of lung cancer. Cancer Epidemiol Biomarkers Prev. 2009;18:2773–81.PubMedCrossRef
13.
14.
Wick M, Zubov D, Hagen G. Genomic organization and promoter characterization of the gene encoding the human telomerase reverse transcriptase (hTERT). Gene. 1999;232:97–106.PubMedCrossRef
15.
Miller RA. Telomere diminution as a cause of immune failure in old age: an unfashionable demurral. Biochem Soc Trans. 2000;28:241–5.PubMed
16.
Damjanovic AK, Yang Y, Glaser R, et al. Accelerated telomere erosion is associated with a declining immune function of caregivers of Alzheimer’s disease patients. J Immunol. 2007;179:4249–54.PubMedCentralPubMedCrossRef
17.
18.
19.
Jang JS, Choi YY, Lee WK, et al. Telomere length and the risk of lung cancer. Cancer Sci. 2008;99:1385–9.PubMedCrossRef
20.
Kyo S, Inoue M. Complex regulatory mechanisms of telomerase activity in normal and cancer cells: how can we apply them for cancer therapy? Oncogene. 2002;21:688–97.PubMedCrossRef
21.
Chen H, Chen Y, Zhao Y, et al. Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a Chinese population. Am J Epidemiol. 2011;173:915–22.PubMedCrossRef
22.
Ding CY, Hu LM, Hu ZB, et al. The relationship between gene polymorphism of telomerase reverse transcriptase and susceptibility to hepatocellular carcinoma. Zhonghua Yu Fang Yi Xue Za Zhi. 2011;45:593–6.PubMed
23.
Gago-Dominguez M, Jiang X, Conti DV, et al. Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case–control study. Carcinogenesis. 2011;32:197–202.PubMedCentralPubMedCrossRef
24.
Hofer P, Baierl A, Bernhart K, et al. Association of genetic variants of human telomerase with colorectal polyps and colorectal cancer risk. Mol Carcinog. 2012;51:E176–82.PubMedCrossRef
25.
Liu Z, Li G, Wei S, et al. Genetic variations in TERT-CLPTM1L genes and risk of squamous cell carcinoma of the head and neck. Carcinogenesis. 2010;31:1977–81.PubMedCentralPubMedCrossRef
26.
Savage SA, Chanock SJ, Lissowska J, et al. Genetic variation in five genes important in telomere biology and risk for breast cancer. Br J Cancer. 2007;97:832–6.PubMedCentralPubMedCrossRef
27.
Wang S, Wu J, Hu L, et al. Common genetic variants in TERT contribute to risk of cervical cancer in a Chinese population. Mol Carcinog. 2012;51:E118–22.PubMedCrossRef
28.
Yamamoto K, Okamoto A, Isonishi S, et al. A novel gene, CRR9, which was up-regulated in CDDP-resistant ovarian tumor cell line, was associated with apoptosis. Biochem Biophys Res Commun. 2001;280:1148–54.PubMedCrossRef
29.
Zienolddiny S, Skaug V, Landvik NE, et al. The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung. Carcinogenesis. 2009;30:1368–71.PubMedCrossRef
30.
Kohno T, Kunitoh H, Shimada Y, et al. Individuals susceptible to lung adenocarcinoma defined by combined HLA-DQA1 and TERT genotypes. Carcinogenesis. 2010;31:834–41.PubMedCrossRef
31.
Miki D, Kubo M, Takahashi A, et al. Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations. Nat Genet. 2010;42:893–6.PubMedCrossRef
32.
Petersen GM, Amundadottir L, Fuchs CS, et al. A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33. Nat Genet. 2010;42:224–8.PubMedCentralPubMedCrossRef
33.
Pooley KA, Tyrer J, Shah M, et al. No association between TERT-CLPTM1L single nucleotide polymorphism rs401681 and mean telomere length or cancer risk. Cancer Epidemiol Biomarkers Prev. 2010;19:1862–5.PubMedCentralPubMedCrossRef
34.
Yoon KA, Park JH, Han J, et al. A genome-wide association study reveals susceptibility variants for non-small cell lung cancer in the Korean population. Hum Mol Genet. 2010;19:4948–54.PubMedCrossRef
35.
Kanetsky PA, Mitra N, Vardhanabhuti S, et al. A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. Hum Mol Genet. 2011;20:3109–17.PubMedCentralPubMedCrossRef
36.
Pande M, Spitz MR, Wu X, et al. Novel genetic variants in the chromosome 5p15.33 region associate with lung cancer risk. Carcinogenesis. 2011;32:1493–9.PubMedCentralPubMedCrossRef
37.
Bae EY, Lee SY, Kang BK, et al. Replication of results of genome-wide association studies on lung cancer susceptibility loci in a Korean population. Respirology. 2012;17:699–706.PubMedCrossRef
38.
Chen XF, Cai S, Chen QG, et al. Multiple variants of TERT and CLPTM1L constitute risk factors for lung adenocarcinoma. Genet Mol Res. 2012;11:370–8.PubMedCrossRef
39.
Myneni AA, Chang SC, Niu R, et al. Genetic polymorphisms of TERT and CLPTM1L and risk of lung cancer–a case–control study in a Chinese population. Lung Cancer. 2013;80:131–7.PubMedCentralPubMedCrossRef
Metadata
Title
Genetic polymorphisms of TERT and CLPTM1L and risk of lung cancer: a case–control study in northeast Chinese male population
Authors
Yue Zhang
Mengmeng Zhao
Li Shen
Yangwu Ren
Lingyan Su
Xuelian Li
Zhihua Yin
Baosen Zhou
Publication date
01-07-2014
Publisher
Springer US
Published in
Medical Oncology / Issue 7/2014
Print ISSN: 1357-0560
Electronic ISSN: 1559-131X
DOI
https://doi.org/10.1007/s12032-014-0018-4

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WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

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