Functional FEN1 genetic variants and haplotypes are associated with glioma risk
详细信息    查看全文
  • 作者:Yi-Dong Chen (1)
    Xiaojiao Zhang (2)
    Xiao-Guang Qiu (3)
    Jinpeng Li (4)
    Qipeng Yuan (2)
    Tao Jiang (5)
    Ming Yang (2)
  • 关键词:FEN1 ; Polymorphism ; Haplotype ; Glioma ; Susceptibility
  • 刊名:Journal of Neuro-Oncology
  • 出版年:2013
  • 出版时间:January 2013
  • 年:2013
  • 卷:111
  • 期:2
  • 页码:145-151
  • 全文大小:203KB
  • 参考文献:1. Harrington JJ, Lieber MR (1994) The characterization of a mammalian DNA structure-specific endonuclease. EMBO J 13:1235-246
    2. Lieber MR (1997) The FEN-1 family of structure-specific nucleases in eukaryotic DNA replication, recombination and repair. BioEssays 19:233-40 CrossRef
    3. Shen B, Singh P, Liu R, Qiu J, Zheng L, Finger LD, Alas S (2005) Multiple but dissectible functions of FEN-1 nucleases in nucleic acid processing, genome stability and diseases. BioEssays 27:717-29 CrossRef
    4. Liu Y, Kao HI, Bambara RA (2004) Flap endonuclease 1: a central component of DNA metabolism. Annu Rev Biochem 73:589-15 CrossRef
    5. Reagan MS, Pittenger C, Siede W, Friedberg EC (1995) Characterization of a mutant strain of / Saccharomyces cerevisiae with a deletion of the RAD27 gene, a structural homolog of the RAD2 nucleotide excision repair gene. J Bacteriol 177:364-71
    6. Zheng L, Zhou M, Chai Q, Parrish J, Xue D, Patrick SM, Turchi JJ, Yannone SM, Chen D, Shen B (2005) Novel function of the flap endonuclease 1 complex in processing stalled DNA replication forks. EMBO Rep 6:83-9 CrossRef
    7. Tishkoff DX, Filosi N, Gaida GM, Kolodner RD (1997) A novel mutation avoidance mechanism dependent on / S. cerevisiae RAD27 is distinct from DNA mismatch repair. Cell 88:253-63 CrossRef
    8. Parrish JZ, Yang C, Shen B, Xue D (2003) CRN-1, a Caenorhabditis elegans FEN-1 homologue, cooperates with CPS-6/EndoG to promote apoptotic DNA degradation. EMBO J 22:3451-460 CrossRef
    9. Kucherlapati M, Yang K, Kuraguchi M, Zhao J, Lia M, Heyer J, Kane MF, Fan K, Russell R, Brown AM, Kneitz B, Edelmann W, Kolodner RD, Lipkin M, Kucherlapati R (2002) Haploinsufficiency of flap endonuclease (Fen1) leads to rapid tumor progression. Proc Natl Acad Sci USA 99:9924-929 CrossRef
    10. Zheng L, Dai H, Zhou M, Li M, Singh P, Qiu J, Tsark W, Huang Q, Kernstine K, Zhang X, Lin D, Shen B (2007) Fen1 mutations result in autoimmunity, chronic inflammation and cancers. Nat Med 13:812-19 CrossRef
    11. Yang M, Guo H, Wu C, He Y, Yu D, Zhou L, Wang F, Xu J, Tan W, Wang G, Shen B, Yuan J, Wu T, Lin D (2009) Functional FEN1 polymorphisms are associated with DNA damage levels and lung cancer risk. Hum Mutat 30:1320-328 CrossRef
    12. Liu L, Zhou C, Zhou L, Peng L, Li D, Zhang X, Zhou M, Kuang P, Yuan Q, Song X, Yang M (2012) Functional FEN1 genetic variants contribute to risk of hepatocellular carcinoma, esophageal cancer, gastric cancer and colorectal cancer. Carcinogenesis 33:119-23 CrossRef
    13. Jemal A, Siegel R, Ward E, Hao Y, Xu J, Thun MJ (2009) Cancer statistics, 2009. CA Cancer J Clin 59:225-49 CrossRef
    14. Ohgaki H, Kleihues P (2005) Epidemiology and etiology of gliomas. Acta Neuropathol 109:93-08 CrossRef
    15. Bondy ML, Scheurer ME, Malmer B, Barnholtz-Sloan JS, Davis FG, Il’yasova D, Kruchko C, McCarthy BJ, Rajaraman P, Schwartzbaum JA, Sadetzki S, Schlehofer B, Tihan T, Wiemels JL, Wrensch M, Buffler PA, Brain Tumor Epidemiology Consortium (2008) Brain tumor epidemiology: consensus from the Brain Tumor Epidemiology Consortium. Cancer 113:1953-968 CrossRef
    16. Hemminki K, Tretli S, Sundquist J, Johannesen TB, Granstr?m C (2009) Familial risks in nervous-system tumours: a histology-specific analysis from Sweden and Norway. Lancet Oncol 10:481-88 CrossRef
    17. Yang M, Sun T, Zhou Y, Wang L, Liu L, Zhang X, Tang X, Zhou M, Kuang P, Tan W, Li H, Yuan Q, Yu D (2012) The functional cytotoxic T lymphocyte-associated protein 4 49G-to-A genetic variant and risk of pancreatic cancer. Cancer 118:4681-686 CrossRef
    18. Yang M, Sun T, Wang L, Yu D, Zhang X, Miao X, Liu J, Zhao D, Li H, Tan W, Lin D (2008) Functional variants in cell death pathway genes and risk of pancreatic cancer. Clin Cancer Res 14:3230-236 CrossRef
    19. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA (2002) Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 70:425-34 CrossRef
    20. Larsen E, Gran C, Saether BE, Seeberg E, Klungland A (2003) Proliferation failure and gamma radiation sensitivity of Fen1 null mutant mice at the blastocyst stage. Mol Cell Biol 23:5346-353 CrossRef
    21. Henneke G, Friedrich-Heineken E, Hübscher U (2003) Flap endonuclease 1: a novel tumour suppresser protein. Trends Biochem Sci 28:384-90 CrossRef
    22. Dubrow R, Darefsky AS (2011) Demographic variation in incidence of adult glioma by subtype, United States, 1992-007. BMC Cancer 11:325 CrossRef
    23. Schultz-Norton JR, Walt KA, Ziegler YS, McLeod IX, Yates JR, Raetzman LT, Nardulli AM (2007) The deoxyribonucleic acid repair protein flap endonuclease-1 modulates estrogen-responsive gene expression. Mol Endocrinol 21:1569-580 CrossRef
  • 作者单位:Yi-Dong Chen (1)
    Xiaojiao Zhang (2)
    Xiao-Guang Qiu (3)
    Jinpeng Li (4)
    Qipeng Yuan (2)
    Tao Jiang (5)
    Ming Yang (2)

    1. Department of Radiation Oncology, Beijing Shijitan Hospital, Capital Medical University, Beijing, China
    2. College of Life Science and Technology, Beijing University of Chemical Technology, P. O. Box 53, Beijing, 100029, China
    3. Glioma Institute of Tiantan Hospital, Capital Medical University, Beijing, China
    4. Department of Intervention Surgery, Shandong Cancer Hospital, Shandong Academy of Medical Sciences, Jinan, Shandong, China
    5. Department of Neurosurgery, Tiantan Hospital, Capital Medical University, Beijing, China
  • ISSN:1573-7373
文摘
As a tumor suppressor, FEN1 plays an essential role in keeping genomic instability and preventing tumorigenesis. There are two functional genetic variants (-9G>A and 4150G>T) in the FEN1 gene, which have been associated with DNA damage levels in coke-oven workers as well as risks of lung cancer, hepatocellular carcinoma, esophageal cancer, gastric cancer and colorectal cancer in general populations. However, it is still unknown how these polymorphisms and their haplotypes are associated with glioma risk. Therefore, we investigated the role of these polymorphisms in glioma development using a case–control design in a Chinese population. The impact of the haplotypes constructed by these two polymorphisms on glioma risk was also examined. It was observed that the FEN1-9GG or 4150GG genotype were significantly associated to increased glioma risk compared with the -9AA or 4150TT genotype [Odds ratios (OR)?=?1.87, 95?% confidence interval (CI)?=?1.23?.85, P?=?0.003; or OR?=?1.87, 95?% CI?=?1.23?.84, P?=?0.003). The associations were more pronounced among female subjects (For -9AG or GG genotype: OR?=?2.35, 95?% CI?=?1.22?.52; for 4150TG or GG genotype: OR?=?2.33, 95?% CI?=?1.21?.48) and patients with grade 1 or 2 disease (For -9AG or GG genotype: OR?=?2.21, 95?% CI?=?1.20?.05; for 4150TG or GG genotype: OR?=?2.45, 95?% CI?=?1.31?.58). Additionally, the G?9G4150 haplotype was also significantly associated with increased glioma risk compared with the A?9T4150 haplotype. Our results suggest that FEN1 polymorphisms and haplotypes are associated with glioma risk.

© 2004-2018 中国地质图书馆版权所有 京ICP备05064691号 京公网安备11010802017129号

地址:北京市海淀区学院路29号 邮编:100083

电话:办公室:(+86 10)66554848;文献借阅、咨询服务、科技查新:66554700