Associations between the rs6010620 Polymorphism in RTEL1 and Risk of Glioma: a Meta-analysis of 20,711 Participants

  • Wu, Yao (Department of Neurosurgery, West China Hospital, Sichuan University) ;
  • Tong, Xiang (Department of Neurosurgery, West China Hospital, Sichuan University) ;
  • Tang, Ling-Li (Women's and Children's Hospital of Wenjiang District) ;
  • Zhou, Kai (Department of Neurosurgery, West China Hospital, Sichuan University) ;
  • Zhong, Chuan-Hong (Department of Neurosurgery, West China Hospital, Sichuan University) ;
  • Jiang, Shu (Department of Neurosurgery, West China Hospital, Sichuan University)
  • Published : 2014.09.15


Background: Associations between the rs6010620 polymorphism in the regulator of telomere elongation helicase1 (RTEL1) gene and glioma have been widely reported but the results were not inconclusive. The aim of the current study was to investigate the association between the rs6010620 polymorphism in RTEL1 gene and risk of glioma by meta-analysis. Materials and Methods: We searched PubMed, Embase, Wanfang Weipu and CNKI (China National Knowledge Infrastructure) databases, which included all research published 05 May 2014. A total of 8,292 cases and 12,419 controls from 14 case-control studies involving the rs6010620 polymorphism in the RTEL1 gene were included. Statistical analysis was performed using STATA 12.0 software. Results: The results indicated that the rs6010620 polymorphism in RTEL1 gene was indeed associated with risk of glioma (OR=1.474, 95%CI=1.282-1.694, p<0.001). On subgroup analysis by ethnicity, we found associations between the rs6010620 polymorphism in the RTEL1 gene and risk of glioma in both Caucasians and Asians. Conclusions: The current meta-analysis suggested that the rs6010620 polymorphism in the RTEL1 gene might increase risk of glioma. In future, larger case-control studies are needed to confirm our results.


  1. Adelman CA, Boulton SJ (2010). Metabolism of postsynaptic recombination intermediates. FEBS letters, 584, 3709-16.
  2. Ahmed R, Oborski MJ, Hwang M, Lieberman FS, Mountz JM (2014). Malignant gliomas: current perspectives in diagnosis, treatment, and early response assessment using advanced quantitative imaging methods. Cancer Manag Res, 6, 149-70
  3. Bai C, Connolly B, Metzker ML, et al (2000). Overexpression of M68/DcR3 in human gastrointestinal tract tumors independent of gene amplification and its location in a fourgene cluster. Proc Natl Acad Sci USA, 97, 1230-5.
  4. Barber LJ, Youds JL, Ward JD, et al (2008). RTEL1 maintains genomic stability by suppressing homologous recombination. Cell, 135, 261-71.
  5. Blackburn EH, Greider CW, Szostak JW (2006). Telomeres and telomerase: the path from maize, Tetrahymena and yeast to human cancer and aging. Nat Med, 12, 1133-8.
  6. Bondy ML, Scheurer ME, Malmer B, et al (2008). Brain tumor epidemiology: consensus from the Brain Tumor Epidemiology Consortium. Cancer, 113, 1953-68.
  7. Chen H, Chen Y, Zhao Y, et al (2011). 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, 173, 915-22.
  8. Das BR, Tangri R, Ahmad F, Roy A, Patole K (2013). Molecular investigation of isocitrate dehydrogenase gene (IDH) mutations in gliomas: first report of IDH2 mutations in Indian patients. Asian Pac J Cancer Prev, 14, 7261-4.
  9. Ding H, Schertzer M, Wu X, et al (2004). Regulation of Murine Telomere Length by Rtel: An Essential Gene Encoding a Helicase-like Protein. Cell, 117, 873-86.
  10. Dolecek TA, Propp JM, Stroup NE, Kruchko C (2012). CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2005-2009. Neuro Oncol, 14, 1-49.
  11. Hackett JA, Greider CW (2002). Balancing instability: dual roles for telomerase and telomere dysfunction in tumorigenesis. Oncogene, 21, 619-26
  12. Li G, Jin T, Liang H, et al (2013a). RTEL1 tagging SNPs and haplotypes were associated with glioma development. Diagn Pathol, 8, 83.
  13. Li L, Tian J, Tian H, et al (2012). Quality and transparency of overviews of systematic reviews. J Evid Based Med, 5, 166-73.
  14. Li-RLL, Li S, Qin X (2013b). Association of XRCC3 Thr241Met polymorphisms and gliomas risk: evidence from a metaanalysis. Asian Pac J Cancer Prev, 14, 4243-7.
  15. Muleris M, Almeida A, Gerbault-Seureau M, Malfoy B, Dutrillaux B (1995). Identification of amplified DNA sequences in breast cancer and their organization within homogeneously staining regions. Genes Chromosomes Cancer, 14, 155-63.
  16. Pitti RM, Marsters SA, Lawrence DA, et al (1998). Genomic amplification of a decoy receptor for Fas ligand in lung and colon cancer. Nature, 396, 699-703.
  17. Safaeian M, Rajaraman P, Hartge P, et al (2013). Joint effects between five identified risk variants, allergy, and autoimmune conditions on glioma risk. Cancer Causes Control, 24, 1885-91.
  18. Schoemaker MJ, Robertson L, Wigertz A, et al (2010). Interaction between 5 genetic variants and allergy in glioma risk. Am J Epidemiol, 171, 1165-73.
  19. Shete S, Hosking FJ, Robertson LB, et al (2009). Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet, 41, 899-904.
  20. Sima XT, Zhong WY, Liu JG, You C (2012). Lack of association between GSTM1 and GSTT1 polymorphisms and brain tumour risk. Asian Pac J Cancer Prev, 13, 325-8.
  21. Uringa EJ, Lisaingo K, Pickett HA, et al (2012). RTEL1 contributes to DNA replication and repair and telomere maintenance. Mol Biol Cell, 23, 2782-92
  22. Uringa EJ, Youds JL, Lisaingo K, Lansdorp PM, Boulton SJ (2011). RTEL1: an essential helicase for telomere maintenance and the regulation of homologous recombination. Nucleic Acids Res, 39, 1647-55.
  23. Vannier JB, Sarek G, Boulton SJ, (2014). RTEL1: Functions of a disease-associated helicase. Trends Cell Biol, 24, 416-25
  24. Walsh KM, Rice T, Decker PA, et al (2013). Genetic variants in telomerase-related genes are associated with an older age at diagnosis in glioma patients: evidence for distinct pathways of gliomagenesis. Neuro Oncol, 15, 1041-7.
  25. Wu X, Sandhu S, Nabi Z, Ding H (2012). Generation of a mouse model for studying the role of upregulated RTEL1 activity in tumorigenesis. Transgenic Res, 21, 1109-15.
  26. Youds JL, Mets DG, McIlwraith MJ, et al (2010). RTEL-1 enforces meiotic crossover interference and homeostasis. Science, 327, 1254-8.
  27. Zhao W, Bian Y, Zhu W, Zou P, Tang G (2014). Regulator of telomere elongation helicase 1 (RTEL1) rs6010620 polymorphism contribute to increased risk of glioma. Tumor Biol, 35, 5259-66.
  28. Zhu LX, Ho SC, Wong TK (2013). Effectiveness of health education programs on exercise behavior among patients with heart disease: a systematic review and meta-analysis. J Evid Based Med, 6, 265-301.

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