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


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.


Supported by : Institute of Life Sciences, Central University


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