Asian Pacific Journal of Cancer Prevention

Asian Pacific Journal of Cancer Prevention (아시아태평양암예방학회)
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Association of the PTEN IVS4 (rs3830675) Gene Polymorphism with Reduced Risk of Cancer: Evidence from a Meta-analysis

  • Mandal, Raju K. (Research and Scientific Studies Unit, College of Nursing and Allied Health Sciences, Jazan University) ;
  • Akhter, Naseem (Department of Biosciences, Jamia Millia Islamia (A Central University)) ;
  • Irshad, Mohammad (Department of Biosciences, Jamia Millia Islamia (A Central University)) ;
  • Panda, Aditya K. (Department of Infectious Disease Biology, Institute of Life Sciences) ;
  • Ali, Arif (Department of Biosciences, Jamia Millia Islamia (A Central University)) ;
  • Haque, Shafiul (Research and Scientific Studies Unit, College of Nursing and Allied Health Sciences, Jazan University)
  • Published : 2015.03.04
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Abstract

PTEN (phosphatase and tensin homologue), as a tumor suppressor gene, plays a significant role in regulating cell growth, proliferation, and apoptosis. Results from published studies for association between the PTEN IVS4 I/D (rs3830675) polymorphism and cancer risk are inconsistent and inconclusive. We therefore conducted a meta-analysis to evaluate the potential association between PTEN IVS4 I/D polymorphism and risk of cancer in detail. We searched PubMed (Medline) and EMBASE web databases to cover all relevant studies published until December 2013. The meta-analysis was carried out and pooled odds ratios (ORs) and 95% confidence intervals (95%CIs) were used to appraise the strength of association. A total of 1,993 confirmed cancer cases and 3,200 controls were included from six eligible case-control studies. Results from overall pooled analysis suggested a significant effect of the PTEN IVS4 I/D polymorphism and cancer risk in all genetic models, i.e., allele (I vs D: OR=0.743, 95%CI=0.648 to 0.852, p=0.001), homozygous (II vs DD: OR=0.673, 95%CI=0.555 to 0.816, p=0.001), heterozygous (ID vs DD: OR=0.641, 95%CI=0.489 to 0.840, p=0.001), dominant (II+ID vs DD: OR=0.626, 95%CI=0.489 to 0.802, p=0.001) and recessive (II vs DD+ID: OR=0.749, 95%CI=0.631 to 0.889, p=0.001). Significant publication bias was detected during the analysis. The present meta-analysis suggests that the PTEN IVS4 I/D polymorphism is significantly associated with reduced risk of cancer. However, future larger studies with other groups of populations are warranted to clarify this association.

Keywords

References

  1. Alimonti A, Carracedo A, Clohessy JG, et al (2010). Subtle variations in PTEN dose determine cancer susceptibility. Nat Genet, 42, 454-8. https://doi.org/10.1038/ng.556
  2. Besson A, Robbins SM, Yong VW (1999). PTEN/MMAC1/TEP1 in signal transduction and tumorigenesis. Eur J Biochem, 263, 605-11. https://doi.org/10.1046/j.1432-1327.1999.00542.x
  3. Canbay E, Kahraman OT, Bugra D, et al (2013a). Association between PTEN IVS4 polymorphism and development of colorectal cancer in a Turkish population. Expert Opin Ther Targets, 17, 1-6. https://doi.org/10.1517/14728222.2013.727398
  4. Canbay E, Kahraman OT, Bugra D, et al (2013b). Increased gastric cancer risk with PTEN IVS4 polymorphism in a Turkish population. Genet Test Mol Biomarkers, 17, 249-53. https://doi.org/10.1089/gtmb.2012.0306
  5. Carroll BT, Couch FJ, Rebbeck TR, et al (2000). Polymorphisms in PTEN in breast cancer families. J Med Genet, 36, 94-96.
  6. Cheng T, Zhang J, Cheng Y, et al (2012). Relationship between PTEN and livin expression and malignancy of renal cell carcinomas. Asian Pac J Cancer Prev, 13, 2681-5 https://doi.org/10.7314/APJCP.2012.13.6.2681
  7. Cohn LD, Becker BJ (2003). How meta-analysis increases statistical power. Psychol Methods, 3, 243-53.
  8. DerSimonian R, Laird N (1986). Meta-analysis in clinical trials. Control Clin Trials, 7, 177-188. https://doi.org/10.1016/0197-2456(86)90046-2
  9. Duval S, Tweedie R (2000). Trim and fill: a simple funnelplotbased method of testing and adjusting for publication bias in meta-analysis. Biometrics, 56, 455-63. https://doi.org/10.1111/j.0006-341X.2000.00455.x
  10. Egger M, Davey Smith G, Schneider M, et al (1997). Bias in meta-analysis detected by a simple, graphical test. BMJ, 7109, 629-34.
  11. Ge H, Cao YY, Chen LQ, et al (2008). PTEN polymorphisms and the risk of esophageal carcinoma and gastric cardiac carcinoma in a high incidence region of China. Dis Esophagus, 21, 409-15. https://doi.org/10.1111/j.1442-2050.2007.00786.x
  12. George DJ, Shepard TF, Ma J, et al (2001). PTEN polymorphism (IVS4) is not associated with risk of prostate cancer. Cancer Epidemiol Biomarkers Prev, 10, 411-412.
  13. Higgins JP, Thompson SG, Deeks JJ, et al (2003). Measuring inconsistency in meta-analyses. BMJ, 7414, 557-60.
  14. Jemal A, Bray F, Center MM, et al (2011). Global cancer statistics. CA Cancer J Clin, 61, 69-90. https://doi.org/10.3322/caac.20107
  15. Jia-Li X, Zhen-Wu W, Ling-Min H, et al (2012). Genetic variants in the PI3K/PTEN/AKT/mTOR pathway predict platinumbased chemotherapy response of advanced non-small cell lung cancers in a Chinese population. Asian Pac J Cancer Prev, 13, 2157-62. https://doi.org/10.7314/APJCP.2012.13.5.2157
  16. Li DM, Sun H (1997). TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta. Cancer Res, 57, 2124-9.
  17. Li J, Yen C, Liaw D, Podsypanina K, et al (1997). PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science, 275, 1943-1947. https://doi.org/10.1126/science.275.5308.1943
  18. Lichtenstein P, Holm NV, Verkasalo PK, et al (2000). Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med, 343, 78-85. https://doi.org/10.1056/NEJM200007133430201
  19. Mahdi KM, Nassiri MR, Nasiri K (2013). Hereditary Genes and SNPs associated with breast cancer. Asian Pac J Cancer Prev, 14, 3403-9 https://doi.org/10.7314/APJCP.2013.14.6.3403
  20. Mandal RK, Yadav SS, Panda AK (2013). Meta-analysis on the association of nucleotide excision repair gene XPD A751C variant and cancer susceptibility among Indian population. Mol Biol Rep, 41, 713-9.
  21. Mantel N, Haenszel W (1959). Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst, 4, 719-48.
  22. Munafo MR, Flint J (2004). Meta-analysis of genetic association studies. Trends Genet, 20, 439-444. https://doi.org/10.1016/j.tig.2004.06.014
  23. Onay VU, Briollais L, Knight JA, et al (2006). SNP-SNP interactions in breast cancer susceptibility. BMC Cancer, 6, 114. https://doi.org/10.1186/1471-2407-6-114
  24. Ozturk O, Canbay E, Kahraman OT, et al (2013). HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. Mol Biol Rep, 40, 1813-8. https://doi.org/10.1007/s11033-012-2235-2
  25. Pandurangan AK (2013). Potential targets for prevention of colorectal cancer: a focus on PI3K/Akt/mTOR and Wnt pathways. Asian Pac J Cancer Prev, 14, 2201-5 https://doi.org/10.7314/APJCP.2013.14.4.2201
  26. Pharoah PD, Dunning AM, Ponder BA, et al (2004). Association studies for finding cancer-susceptibility genetic variants. Nat Rev Cancer, 4, 850-60. https://doi.org/10.1038/nrc1476
  27. Salmena L, Carracedo A, Pandolfi PP (2008). Tenets of PTEN tumor suppression. Cell, 133, 403-14. https://doi.org/10.1016/j.cell.2008.04.013
  28. Steck PA, Pershouse MA, Jasser SA, et al (1997). Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet, 15, 356-62. https://doi.org/10.1038/ng0497-356
  29. Sun H, Lesche R, Li DM, et al (1999). PTEN modulates cell cycle progression and cell survival by regulating phosphatidylinositol 3,4,5,-trisphosphate and Akt/protein kinase B signaling pathway. Proc Natl Acad Sci USA, 96, 61996204.
  30. Tamura M, Gu J, Matsumoto K, et al (1998). Inhibition of cell migration, spreading, and focal adhesions by tumor suppressor PTEN. Science, 280, 1614-7. https://doi.org/10.1126/science.280.5369.1614
  31. Tamura M, Gu J, Takino T, et al (1999). Tumor suppressor PTEN inhibition of cell invasion, migration, and growth: differential involvement of focal adhesion kinase and p130Cas. Cancer Res, 59, 442-9.
  32. Wen-Ting X, Zhen Yang, Nong-Hua Lu (2014) Roles of PTEN (phosphatase and tensin homolog) in gastric cancer development and progression. Asian Pac J Cancer Prev, 15, 17-24. https://doi.org/10.7314/APJCP.2014.15.1.17
  33. Woolf B (1955). On estimating the relation between blood group and disease. Ann Hum Genet, 19, 251-3. https://doi.org/10.1111/j.1469-1809.1955.tb01348.x
  34. Wu R, Li B (1999). A multiplicative-epistatic model for analyzing interspecific differences in outcrossing species. Biometrics, 2, 355-65.
  35. Wu X, Senechal K, Neshat MS, et al (1998). The PTEN/MMAC1 tumor suppressor phosphatase functions as a negative regulator of the phosphoinositide 3-kinase/Akt pathway. Proc Natl Acad Sci USA, 95, 15587-91. https://doi.org/10.1073/pnas.95.26.15587
  36. Zhou YH, Tan F, Hess KR, et al (2003). The expression of PAX6, PTEN, vascular endothelial growth factor, and epidermal growth factor receptor in gliomas: relationship to tumor grade and survival. Clin Cancer Res, 9, 3369-75.