MLH1 Polymorphisms and Cancer risk: a Meta-analysis Based on 33 Case-control Studies

  • Xu, Jia-Li (Department of Oncology, The First Affiliated Hospital of Nanjing Medical University) ;
  • Yin, Zhi-Qiang (Department of Dermatology, The First Affiliated Hospital of Nanjing Medical University) ;
  • Huang, Ming-De (Department of Oncology, Huai'an No. 1 hospital affiliated to Nanjing Medical University) ;
  • Wang, Xie-Feng (Department of Neurosurgery, The First Affiliated Hospital of Nanjing Medical University) ;
  • Gao, Wen (Department of Oncology, The First Affiliated Hospital of Nanjing Medical University) ;
  • Liu, Ling-Xiang (Department of Oncology, The First Affiliated Hospital of Nanjing Medical University) ;
  • Wang, Rong-Sheng (Department of Oncology, The First Affiliated Hospital of Nanjing Medical University) ;
  • Huang, Pu-Wen (Department of Oncology, The First Affiliated Hospital of Nanjing Medical University) ;
  • Yin, Yong-Mei (Department of Oncology, The First Affiliated Hospital of Nanjing Medical University) ;
  • Liu, Ping (Department of Oncology, The First Affiliated Hospital of Nanjing Medical University) ;
  • Shu, Yong-Qian (Department of Oncology, The First Affiliated Hospital of Nanjing Medical University)
  • Published : 2012.03.31


Objective: Cumulative evidence suggests that MLH1, the key component in the mismatch pathway, plays an important role in human cancers. Two potential functional polymorphisms (-93G>A and I219V) of MLH1 have been implicated in cancer risk. The aim of this meta-analysis was to summarize the evidence for associations. Methods: Eligible studies were identified by searching the electronic literature PubMed, ScienceDirect and Embase databases for relevant reports and bibliographies. Studies were included if of case-control design investigating MLH1 polymorphisms (-93G>A and I219V) and cancer risk with sufficient raw data for analysis. Odds ratios (OR) and 95% confidence intervals (95% CI) were used to evaluate the strength of associations. Results: Our meta-analysis from 33 published case-control studies showed the variant A allele of -93G>A polymorphism to be associated with increased risk in all genetic models (AA vs. GG: OR = 1.22, 95% CI: 1.03-1.44), especially among non-Asians (AA vs. GG: OR = 1.28, 95% CI: 1.04-1.58). For the I219V polymorphism, however, there was no main effect associated with overall cancer risk in any genetic model. Conclusions: The meta-analysis suggested that the MLH1 -93G>A polymorphism may be a biomarker of cancer susceptibility. Large sample association studies and assessment of gene-to-gene as well as gene-to-environment interactions are required to confirm these findings.


Supported by : National Natural Science Funds


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