Skip to main content

Advertisement

Log in

Caspase8 rs1035142 G>T polymorphism was associated with an increased risk of esophageal cancer in a Chinese population

  • Published:
Molecular Biology Reports Aims and scope Submit manuscript

Abstract

Esophageal cancer is one of the ten most common cancers in the world and has poor prognosis. Apoptosis is considered a fundamental component in cancer pathogenesis. We conducted a hospital-based case–control study to evaluate the genetic effects of 16 apoptosis associated single nucleotide polymorphisms (SNPs) on esophageal cancer development. A total of 380 esophageal squamous cell carcinoma (ESCC) cases and 380 controls were recruited for this study. Genotypes were determined using a custom-by-design 48-Plex SNPscan™ Kit. The caspase8 (CASP8) rs1035142 G>T polymorphism was associated with increased risk of ESCC by heterozygote comparison, homozygote comparison, a dominant genetic model and a recessive genetic model. However, no significant association was detected between the other 15 SNPs and ESCC risk. Stratified analyses indicated a significantly increased risk of ESCC associated with CASP8 rs1035142 G>T polymorphism was evident among all subgroups. These findings indicated that the functional polymorphism CASP8 rs1035142 G>T might contribute to ESCC susceptibility.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

Abbreviations

CI:

Confidential interval

CASP8 :

Caspase8

LD:

Linkage disequilibrium

OR:

Odds ratio

SNPs:

Single nucleotide polymorphisms

References

  1. Shinomiya T, Mori T, Ariyama Y, Sakabe T, Fukuda Y, Murakami Y, Nakamura Y, Inazawa J (1999) Comparative genomic hybridization of squamous cell carcinoma of the esophagus: the possible involvement of the DPI gene in the 13q34 amplicon. Genes Chromosomes Cancer 24:337–344

    Article  PubMed  CAS  Google Scholar 

  2. Macfarlane GJ, Boyle P (1994) The epidemiology of oesophageal cancer in the UK and other European countries. J R Soc Med 87:334–337

    PubMed Central  PubMed  CAS  Google Scholar 

  3. Wang LD, Zhou FY, Li XM, Sun LD, Song X, Jin Y, Li JM, Kong GQ, Qi H, Cui J, Zhang LQ, Yang JZ, Li JL, Li XC, Ren JL, Liu ZC, Gao WJ, Yuan L, Wei W, Zhang YR, Wang WP, Sheyhidin I, Li F, Chen BP, Ren SW, Liu B, Li D, Ku JW, Fan ZM, Zhou SL, Guo ZG, Zhao XK, Liu N, Ai YH, Shen FF, Cui WY, Song S, Guo T, Huang J, Yuan C, Huang J, Wu Y, Yue WB, Feng CW, Li HL, Wang Y, Tian JY, Lu Y, Yuan Y, Zhu WL, Liu M, Fu WJ, Yang X, Wang HJ, Han SL, Chen J, Han M, Wang HY, Zhang P, Li XM, Dong JC, Xing GL, Wang R, Guo M, Chang ZW, Liu HL, Guo L, Yuan ZQ, Liu H, Lu Q, Yang LQ, Zhu FG, Yang XF, Feng XS, Wang Z, Li Y, Gao SG, Qige Q, Bai LT, Yang WJ, Lei GY, Shen ZY, Chen LQ, Li EM, Xu LY, Wu ZY, Cao WK, Wang JP, Bao ZQ, Chen JL, Ding GC, Zhuang X, Zhou YF, Zheng HF, Zhang Z, Zuo XB, Dong ZM, Fan DM, He X, Wang J, Zhou Q, Zhang QX, Jiao XY, Lian SY, Ji AF, Lu XM, Wang JS, Chang FB, Lu CD, Chen ZG, Miao JJ, Fan ZL, Lin RB, Liu TJ, Wei JC, Kong QP, Lan Y, Fan YJ, Gao FS, Wang TY, Xie D, Chen SQ, Yang WC, Hong JY, Wang L, Qiu SL, Cai ZM, Zhang XJ (2010) Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54. Nat Genet 42:759–763

    Article  PubMed  CAS  Google Scholar 

  4. Lowe SW, Lin AW (2000) Apoptosis in cancer. Carcinogenesis 21:485–495

    Article  PubMed  CAS  Google Scholar 

  5. Krelin Y, Zhang L, Kang TB, Appel E, Kovalenko A, Wallach D (2008) Caspase-8 deficiency facilitates cellular transformation in vitro. Cell Death Differ 15:1350–1355

    Article  PubMed  CAS  Google Scholar 

  6. Lee WK, Kim JS, Kang HG, Cha SI, Kim DS, Hyun DS, Kam S, Kim CH, Jung TH, Park JY (2009) Polymorphisms in the Caspase7 gene and the risk of lung cancer. Lung Cancer 65:19–24

    Article  PubMed  Google Scholar 

  7. Wang S, El-Deiry WS (2003) TRAIL and apoptosis induction by TNF-family death receptors. Oncogene 22:8628–8633

    Article  PubMed  CAS  Google Scholar 

  8. Krammer PH (2000) CD95’s deadly mission in the immune system. Nature 407:789–795

    Article  PubMed  CAS  Google Scholar 

  9. Iwabuchi K, Li B, Massa HF, Trask BJ, Date T, Fields S (1998) Stimulation of p53-mediated transcriptional activation by the p53-binding proteins, 53BP1 and 53BP2. J Biol Chem 273:26061–26068

    Article  PubMed  CAS  Google Scholar 

  10. Graham SH, Chen J, Clark RS (2000) Bcl-2 family gene products in cerebral ischemia and traumatic brain injury. J Neurotrauma 17:831–841

    Article  PubMed  CAS  Google Scholar 

  11. Stephens P, Hunter C, Bignell G, Edkins S, Davies H, Teague J, Stevens C, O’Meara S, Smith R, Parker A, Barthorpe A, Blow M, Brackenbury L, Butler A, Clarke O, Cole J, Dicks E, Dike A, Drozd A, Edwards K, Forbes S, Foster R, Gray K, Greenman C, Halliday K, Hills K, Kosmidou V, Lugg R, Menzies A, Perry J, Petty R, Raine K, Ratford L, Shepherd R, Small A, Stephens Y, Tofts C, Varian J, West S, Widaa S, Yates A, Brasseur F, Cooper CS, Flanagan AM, Knowles M, Leung SY, Louis DN, Looijenga LH, Malkowicz B, Pierotti MA, Teh B, Chenevix-Trench G, Weber BL, Yuen ST, Harris G, Goldstraw P, Nicholson AG, Futreal PA, Wooster R, Stratton MR (2004) Lung cancer: intragenic ERBB2 kinase mutations in tumours. Nature 431:525–526

    Article  PubMed  CAS  Google Scholar 

  12. Harari D, Yarden Y (2000) Molecular mechanisms underlying ErbB2/HER2 action in breast cancer. Oncogene 19:6102–6114

    Article  PubMed  CAS  Google Scholar 

  13. Takahashi T, Shibuya M (1997) The 230 kDa mature form of KDR/Flk-1 (VEGF receptor-2) activates the PLC-gamma pathway and partially induces mitotic signals in NIH3T3 fibroblasts. Oncogene 14:2079–2089

    Article  PubMed  CAS  Google Scholar 

  14. Darragh J, Hunter M, Pohler E, Nelson L, Dillon JF, Nenutil R, Vojtesek B, Ross PE, Kernohan N, Hupp TR (2006) The calcium-binding domain of the stress protein SEP53 is required for survival in response to deoxycholic acid-mediated injury. FEBS J 273:1930–1947

    Article  PubMed  CAS  Google Scholar 

  15. Flanders WD, Lally CA, Zhu BP, Henley SJ, Thun MJ (2003) Lung cancer mortality in relation to age, duration of smoking, and daily cigarette consumption: results from Cancer Prevention Study II. Cancer Res 63:6556–6562

    PubMed  CAS  Google Scholar 

  16. Kjaerheim K, Gaard M, Andersen A (1998) The role of alcohol, tobacco, and dietary factors in upper aerogastric tract cancers: a prospective study of 10,900 Norwegian men. Cancer Causes Control 9:99–108

    Article  PubMed  CAS  Google Scholar 

  17. Wu IC, Zhao Y, Zhai R, Liu G, Ter-Minassian M, Asomaning K, Su L, Liu CY, Chen F, Kulke MH, Heist RS, Christiani DC (2011) Association between polymorphisms in cancer-related genes and early onset of esophageal adenocarcinoma. Neoplasia 13:386–392

    PubMed Central  PubMed  CAS  Google Scholar 

  18. Liu CY, Wu MC, Chen F, Ter-Minassian M, Asomaning K, Zhai R, Wang Z, Su L, Heist RS, Kulke MH, Lin X, Liu G, Christiani DC (2010) A large-scale genetic association study of esophageal adenocarcinoma risk. Carcinogenesis 31:1259–1263

    Article  PubMed Central  PubMed  CAS  Google Scholar 

  19. Wu IC, Zhao Y, Zhai R, Liu CY, Chen F, Ter-Minassian M, Asomaning K, Su L, Heist RS, Kulke MH, Liu G, Christiani DC (2011) Interactions between genetic polymorphisms in the apoptotic pathway and environmental factors on esophageal adenocarcinoma risk. Carcinogenesis 32:502–506

    Article  PubMed Central  PubMed  CAS  Google Scholar 

  20. Bye H, Prescott NJ, Matejcic M, Rose E, Lewis CM, Parker MI, Mathew CG (2011) Population-specific genetic associations with oesophageal squamous cell carcinoma in South Africa. Carcinogenesis 32:1855–1861

    Article  PubMed Central  PubMed  CAS  Google Scholar 

  21. Zhang Z, Qiu L, Wang M, Tong N, Li J, Zhang Z (2009) The FAS ligand promoter polymorphism, rs763110 (−844C>T), contributes to cancer susceptibility: evidence from 19 case–control studies. Eur J Hum Genet 17:1294–1303

    Article  PubMed Central  PubMed  CAS  Google Scholar 

  22. Boonstra JJ, van Marion R, Tilanus HW, Dinjens WN (2011) Functional polymorphisms associated with disease-free survival in resected carcinoma of the esophagus. J Gastrointest Surg 15:48–56

    Article  PubMed Central  PubMed  Google Scholar 

  23. Zhai R, Zhao Y, Liu G, Ter-Minassian M, Wu IC, Wang Z, Su L, Asomaning K, Chen F, Kulke MH, Lin X, Heist RS, Wain JC, Christiani DC (2012) Interactions between environmental factors and polymorphisms in angiogenesis pathway genes in esophageal adenocarcinoma risk: a case-only study. Cancer 118:804–811

    Article  PubMed Central  PubMed  CAS  Google Scholar 

  24. Zhang W, Chen X, Luo A, Lin D, Tan W, Liu Z (2009) Genetic variants of C1orf10 and risk of esophageal squamous cell carcinoma in a Chinese population. Cancer Sci 100:1695–1700

    Article  PubMed  CAS  Google Scholar 

  25. Chen X, Li S, Yang Y, Yang X, Liu Y, Liu Y, Hu W, Jin L, Wang X (2012) Genome-wide association study validation identifies novel loci for atherosclerotic cardiovascular disease. J Thromb Haemost 10:1508–1514

    Article  PubMed  CAS  Google Scholar 

  26. Zheng L, Yin J, Wang L, Wang X, Shi Y, Shao A, Tang W, Ding G, Liu C, Chen S, Gu H (2013) Interleukin 1B rs16944 G>A polymorphism was associated with a decreased risk of esophageal cancer in a Chinese population. Clin Biochem 46(15):1469–1473. doi:10.1016/j.clinbiochem.2013.05.050

    Article  PubMed  CAS  Google Scholar 

  27. Hengartner MO (2000) The biochemistry of apoptosis. Nature 407:770–776

    Article  PubMed  CAS  Google Scholar 

  28. Grenet J, Teitz T, Wei T, Valentine V, Kidd VJ (1999) Structure and chromosome localization of the human CASP8 gene. Gene 226:225–232

    Article  PubMed  CAS  Google Scholar 

  29. Heikaus S, Kempf T, Mahotka C, Gabbert HE, Ramp U (2008) Caspase-8 and its inhibitors in RCCs in vivo: the prominent role of ARC. Apoptosis 13:938–949

    Article  PubMed  CAS  Google Scholar 

  30. Barrett JH, Iles MM, Harland M, Taylor JC, Aitken JF, Andresen PA, Akslen LA, Armstrong BK, Avril MF, Azizi E, Bakker B, Bergman W, Bianchi-Scarra G, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Corda E, Cust AE, Debniak T, Duffy D, Dunning AM, Easton DF, Friedman E, Galan P, Ghiorzo P, Giles GG, Hansson J, Hocevar M, Hoiom V, Hopper JL, Ingvar C, Janssen B, Jenkins MA, Jonsson G, Kefford RF, Landi G, Landi MT, Lang J, Lubinski J, Mackie R, Malvehy J, Martin NG, Molven A, Montgomery GW, van Nieuwpoort FA, Novakovic S, Olsson H, Pastorino L, Puig S, Puig-Butille JA, Randerson-Moor J, Snowden H, Tuominen R, Van Belle P, van der Stoep N, Whiteman DC, Zelenika D, Han J, Fang S, Lee JE, Wei Q, Lathrop GM, Gillanders EM, Brown KM, Goldstein AM, Kanetsky PA, Mann GJ, Macgregor S, Elder DE, Amos CI, Hayward NK, Gruis NA, Demenais F, Bishop JA, Bishop DT (2011) Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet 43:1108–1113

    Article  PubMed Central  PubMed  CAS  Google Scholar 

  31. Enjuanes A, Benavente Y, Bosch F, Martin-Guerrero I, Colomer D, Perez-Alvarez S, Reina O, Ardanaz MT, Jares P, Garcia-Orad A, Pujana MA, Montserrat E, de Sanjose S, Campo E (2008) Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. Cancer Res 68:10178–10186

    Article  PubMed  CAS  Google Scholar 

  32. Couch FJ, Wang X, McWilliams RR, Bamlet WR, de Andrade M, Petersen GM (2009) Association of breast cancer susceptibility variants with risk of pancreatic cancer. Cancer Epidemiol Biomarkers Prev 18:3044–3048

    Article  PubMed Central  PubMed  CAS  Google Scholar 

  33. Camp NJ, Parry M, Knight S, Abo R, Elliott G, Rigas SH, Balasubramanian SP, Reed MW, McBurney H, Latif A, Newman WG, Cannon-Albright LA, Evans DG, Cox (2012) A Fine-mapping CASP8 risk variants in breast cancer. Cancer Epidemiol Biomarkers Prev 21:176–181

    Article  PubMed Central  PubMed  CAS  Google Scholar 

  34. Li H, Zhu H, Xu CJ, Yuan J (1998) Cleavage of BID by caspase 8 mediates the mitochondrial damage in the Fas pathway of apoptosis. Cell 94:491–501

    Article  PubMed  CAS  Google Scholar 

  35. Green DR, Droin N, Pinkoski M (2003) Activation-induced cell death in T cells. Immunol Rev 193:70–81

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

This study was supported in part by National Natural Science Foundation of China (81101889, 81000028), Jiangsu Province Natural Science Foundation (BK2010333, BK2011481) and Social Development Foundation of Zhenjiang (SH2010017).

Conflict of interest

The authors have declared that no competing interests exist.

Author information

Authors and Affiliations

Authors

Corresponding authors

Correspondence to Suocheng Chen or Haiyong Gu.

Additional information

Jun Yin and Weifeng Tang contributed equally to this work.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Yin, J., Tang, W., Shao, A. et al. Caspase8 rs1035142 G>T polymorphism was associated with an increased risk of esophageal cancer in a Chinese population. Mol Biol Rep 41, 2037–2043 (2014). https://doi.org/10.1007/s11033-014-3052-6

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11033-014-3052-6

Keywords

Navigation