Abstract
The implication of genetic factors in predisposition to cancer is a recognized fact. The Cleft lip and palate transmembrane 1-like (CLPTM1L) gene resides in a locus in the chromosome 5p15.33 region that is associated with lung cancer susceptibility and has a role in carcinogenesis. We conducted a case-control study in a Chinese population of 309 pathologically confirmed lung cancer patients and 310 controls to investigate the effect of variant genotypes within the CLPTM1L locus on susceptibility to lung cancer and sensitivity to cisplatin-based chemotherapy. We genotyped nine single nucleotide polymorphisms (SNPs) within the CLPTM1L locus and examined their correlation with lung cancer risk and treatment response using χ 2 and unconditional logistic regression analysis. We identified rs451360 as a novel SNP associated with lung cancer risk in the Chinese Han population. The “T” allele of rs451360 was associated with decreased risk of lung cancer (p = 0.007, odd ratio (OR) = 0.59, 95 % confidence interval (CI): 0.40–0.87). Significant multiplicative interactions were observed between gender and polymorphisms of rs402710, the “T/T” genotype of which was associated with decreased lung cancer risk in male patients (p = 0.016, OR = 0.35, 95 % CI: 0.17–0.73). CLPTM1L polymorphisms did not affect the tumor sensitivity to cisplatin combination chemotherapy in our study patients. The results of the present study suggest a potential association between CLPTM1L variants and lung cancer risk in the Chinese Han populations.
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Smith RA, Cokkinides V, Brooks D, Saslow D, Shah M, Brawley OW. Cancer screening in the United States, 2011: a review of current American Cancer Society guidelines and issues in cancer screening. CA Cancer J Clin. 2011;61:8–30.
Pirozynski M. 100 years of lung cancer. Respir Med. 2006;100:2073–84.
Chen WQ, Zeng HM, Zheng RS, Zhang SW, He J. Cancer incidence and mortality in China. Chin J Cancer Res. 2007;24:1–8.
Chen WQ, Zhang SW, Zou XN. Evaluation on the incidence, mortality and tendency of lung cancer in China. Thorac Cancer. 2010;1:35–40.
Shields PG. Molecular epidemiology of smoking and lung cancer. Oncogene. 2002;21:6870–6.
Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, et al. Environmental and heritable factors in the causation of cancer—analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med. 2000;343:78–85.
D’Addario G, Pintilie M, Leighl NB, Feld R, Cerny T, Shepherd FA. Platinum-based versus non-platinum-based chemotherapy in advanced non-small-cell lung cancer: a meta-analysis of the published literature. J Clin Oncol. 2005;23:2926–36.
Chang A. Chemotherapy, chemoresistance and the changing treatment landscape for NSCLC. Lung Cancer. 2011;71:3–10.
Seng KC, Seng CK. The success of the genome-wide association approach: a brief story of a long struggle. Eur J Hum Genet. 2008;16:554–64.
McKay JD, Hung RJ, Gaborieau V, Boffetta P, Chabrier A, Byrnes G, et al. Lung cancer susceptibility locus at 5p15.33. Nat Genet. 2008;40:1404–6.
Haiman CA, Chen GK, Vachon CM, Canzian F, Dunning A, Millikan RC, et al. A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet. 2011;43:1210–4.
Petersen GM, Amundadottir L, Fuchs CS, Kraft P, Stolzenberg-Solomon RZ, Jacobs KB, 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.
Rafnar T, Sulem P, Stacey SN, Geller F, Gudmundsson J, Sigurdsson A, et al. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet. 2009;41:221–7.
Yamamoto K, Okamoto A, Isonishi S, Ochiai K, Ohtake Y. 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.
Ni Z, Tao K, Chen G, Chen Q, Tang J, Luo X, et al. CLPTM1L is overexpressed in lung cancer and associated with apoptosis. PLoS ONE. 2012;7:e52598.
James MA, Wen W, Wang Y, Byers LA, Heymach JV, Coombes KR, et al. Functional characterization of CLPTM1L as a lung cancer risk candidate gene in the 5p15.33 locus. PLoS ONE. 2012;7:e36116.
Pande M, Spitz MR, Wu X, Gorlov IP, Chen WV, Amos CI. Novel genetic variants in the chromosome 5p15.33 region associate with lung cancer risk. Carcinogenesis. 2011;32:1493–9.
Wang Y, Broderick P, Webb E, Wu X, Vijayakrishnan J, Matakidou A, et al. Common 5p15.33 and 6p21.33 variants influence lung cancer risk. Nat Genet. 2008;40:1407–9.
Therasse P, Arbuck SG, Eisenhauer EA, Wanders J, Kaplan RS, Rubinstein L, et al. New guidelines to evaluate the response to treatment in solid tumors. J Natl Cancer Inst. 2000;92:205–16.
Ramirez JL, Rosell R, Taron M, Sanchez-Ronco M, Alberola V, de Las PR, et al. 14-3-3sigma methylation in pretreatment serum circulating DNA of cisplatin-plus-gemcitabine-treated advanced non-small-cell lung cancer patients predicts survival: the Spanish lung cancer group. J Clin Oncol Off J Am Soc Clin Oncol. 2005;23:9105–12.
Law MH, Montgomery GW, Brown KM, Martin NG, Mann GJ, Hayward NK, et al. Meta-analysis combining new and existing data sets confirms that the TERT-CLPTM1L locus influences melanoma risk. J Investig Dermatol. 2012;132:485–7.
Landi MT, Chatterjee N, Yu K, Goldin LR, Goldstein AM, Rotunno M, 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.
Wang Y, Broderick P, Matakidou A, Eisen T, Houlston RS. Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers. Carcinogenesis. 2010;31:234–8.
Gabriel S, Ziaugra L, Tabbaa D. SNP genotyping using the Sequenom MassARRAY iPLEX platform.; Current Protocols in Human Genetics; 2009, vol 1 Chapter 2 (2009) Unit 2 12
Thomas RK, Baker AC, Debiasi RM, Winckler W, Laframboise T, Lin WM, et al. High-throughput oncogene mutation profiling in human cancer. Nat Genet. 2007;39:347–51.
Li S, Jin T, Zhang J, Lou H, Yang B, Li Y, et al. Polymorphisms of TREH, IL4R and CCD26 genes associated with risk of glioma. Cancer Epidemiol. 2012;36:283–7.
Speedy HE, Di Bernardo MC, Sava GP, Dyer MJ, Holroyd A, Wang Y, et al. A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. Nat Genet. 2014;46:56–60.
Bland JM, Altman DG. Statistics notes. The odds ratio. BMJ. 2000;320:1468.
Shi YY, He L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res. 2005;15:97–8.
Vazquez-Mena O, Medina-Martinez I, Juarez-Torres E, Barron V, Espinosa A, Villegas-Sepulveda N, et al. Amplified genes may be overexpressed, unchanged, or downregulated in cervical cancer cell lines. PLoS ONE. 2012;7:e32667.
Asakura T, Imai A, Ohkubo-Uraoka N, Kuroda M, Iidaka Y, Uchida K, et al. Relationship between expression of drug-resistance factors and drug sensitivity in normal human renal proximal tubular epithelial cells in comparison with renal cell carcinoma. Oncol Rep. 2005;14:601–7.
Colombo J, Fachel AA, De Freitas Calmon M, Cury PM, Fukuyama EE, Tajara EH, et al. Gene expression profiling reveals molecular marker candidates of laryngeal squamous cell carcinoma. Oncol Rep. 2009;21:649–63.
Zienolddiny S, Skaug V, Landvik NE, Ryberg D, Phillips DH, Houlston R, et al. The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung. Carcinogenesis. 2009;30:1368–71.
Phillips DH. Smoking-related DNA and protein adducts in human tissues. Carcinogenesis. 2002;23:1979–2004.
Arif JM, Dresler C, Clapper ML, Gairola CG, Srinivasan C, Lubet RA, et al. Lung DNA adducts detected in human smokers are unrelated to typical polyaromatic carcinogens. Chem Res Toxicol. 2006;19:295–9.
Le Calvez F, Mukeria A, Hunt JD, Kelm O, Hung RJ, Taniere P, et al. TP53 and KRAS mutation load and types in lung cancers in relation to tobacco smoke: distinct patterns in never, former, and current smokers. Cancer Res. 2005;65:5076–83.
Zhang RCQ, Lu Y. The analysis of cigarette smoking behaviors and its influencing factors among Chinese urban and rural residents. Acta Univ Med Nanjing. 2014;34:84–9.
James MA, Vikis HG, Tate E, Rymaszewski AL, You M. CRR9/CLPTM1L regulates cell survival signaling and is required for Ras transformation and lung tumorigenesis. Cancer Res. 2014;74:1116–27.
Acknowledgments
This work is supported by the National Science and Technology Major Project of the Ministry of Science and Technology of China (No. 2012ZX09506001).
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The authors declare that they have no competing interests.
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Liang, Y., Thakur, A., Gao, L. et al. Correlation of CLPTM1L polymorphisms with lung cancer susceptibility and response to cisplatin-based chemotherapy in a Chinese Han population. Tumor Biol. 35, 12075–12082 (2014). https://doi.org/10.1007/s13277-014-2508-6
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DOI: https://doi.org/10.1007/s13277-014-2508-6