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

详细信息    查看全文

• 作者：Yue Zhang (1) (2)
  Mengmeng Zhao (1) (2)
  Li Shen (1) (2)
  Yangwu Ren (1) (2)
  Lingyan Su (1) (2)
  Xuelian Li (1) (2)
  Zhihua Yin (1) (2)
  Baosen Zhou (1) (2)
  
• 关键词：TERT ; CLPTM1L ; Polymorphisms ; Lung cancer ; Males
• 刊名：Medical Oncology
• 出版年：2014
• 出版时间：July 2014
• 年：2014
• 卷：31
• 期：7
• 全文大小：
• 参考文献：1. Ferlay J, Shin HR, Bray F, et al. Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int J Cancer. 2010;127:2893-17. CrossRef
  2. Jemal A, Bray F, Center MM, et al. Global cancer statistics. CA Cancer J Clin. 2011;61:69-0. CrossRef
  3. Alberg AJ, Samet JM. Epidemiology of lung cancer. Chest. 2003;123:21S-9S. CrossRef
  4. Wang Y, Broderick P, Webb E, et al. Common 5p15.33 and 6p21.33 variants influence lung cancer risk. Nat Genet. 2008;40:1407-. CrossRef
  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;69:6633-1. CrossRef
  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-. CrossRef
  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;85:679-1. CrossRef
  8. McKay JD, Hung RJ, Gaborieau V, et al. Lung cancer susceptibility locus at 5p15.33. Nat Genet. 2008;40:1404-. CrossRef
  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-. CrossRef
  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-. CrossRef
  12. Choi JE, Kang HG, Jang JS, et al. Polymorphisms in telomere maintenance genes and risk of lung cancer. Cancer Epidemiol Biomarkers Prev. 2009;18:2773-1. CrossRef
  13. Li C, Yin Z, Wu W, et al. Genetic variations in TERT-CLPTM1L genes and risk of lung cancer in Chinese women nonsmokers. PLoS ONE. 2013;8:e64988. CrossRef
  14. Wick M, Zubov D, Hagen G. Genomic organization and promoter characterization of the gene encoding the human telomerase reverse transcriptase (hTERT). Gene. 1999;232:97-06. CrossRef
  15. Miller RA. Telomere diminution as a cause of immune failure in old age: an unfashionable demurral. Biochem Soc Trans. 2000;28:241-.
  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;179:4249-4. CrossRef
  17. Collins K, Mitchell JR. Telomerase in the human organism. Oncogene. 2002;21:564-9. CrossRef
  18. Bagheri S, Nosrati M, Li S, et al. Genes and pathways downstream of telomerase in melanoma metastasis. Proc Natl Acad Sci U S A. 2006;103:11306-1. CrossRef
  19. Jang JS, Choi YY, Lee WK, et al. Telomere length and the risk of lung cancer. Cancer Sci. 2008;99:1385-. CrossRef
  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;21:688-7. CrossRef
  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;173:915-2. CrossRef
  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-.
  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;32:197-02. CrossRef
  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:E176-2. CrossRef
  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;31:1977-1. CrossRef
  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-. CrossRef
  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:E118-2. CrossRef
  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;280:1148-4. CrossRef
  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;30:1368-1. CrossRef
  30. Kohno T, Kunitoh H, Shimada Y, et al. Individuals susceptible to lung adenocarcinoma defined by combined HLA-DQA1 and TERT genotypes. Carcinogenesis. 2010;31:834-1. CrossRef
  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-. CrossRef
  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-. CrossRef
  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-. CrossRef
  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;19:4948-4. CrossRef
  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;20:3109-7. CrossRef
  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-. CrossRef
  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;17:699-06. CrossRef
  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-. CrossRef
  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-. CrossRef
  
• 作者单位：Yue Zhang (1) (2)
  Mengmeng Zhao (1) (2)
  Li Shen (1) (2)
  Yangwu Ren (1) (2)
  Lingyan Su (1) (2)
  Xuelian Li (1) (2)
  Zhihua Yin (1) (2)
  Baosen Zhou (1) (2)
  
  1. Department of Epidemiology, School of Public Health, China Medical University, Shenyang, 110001, China
  2. Key Laboratory of Cancer Etiology and Intervention, University of Liaoning Province, Shenyang, China
  
• ISSN：1559-131X

文摘

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.