MDM2 promoter polymorphism SNP309 contributes to tumor susceptibility: evidence from 21 case-control studies

Cancer Epidemiol Biomarkers Prev. 2007 Dec;16(12):2717-23. doi: 10.1158/1055-9965.EPI-07-0634.

Abstract

Since the identification of a well-characterized functional polymorphism named SNP309 in MDM2, abundant studies were published in the last 2 years to evaluate the association between SNP309 and tumor risk in diverse populations. However, the results remain conflicting rather than conclusive. Because a single study may have been underpowered to detect the effect of low-penetrance genes, a quantitative synthesis to accumulate data from different studies may provide better evidence on the association of genetic variant with tumor susceptibility. We conducted a meta-analysis on 14,770 cases with different tumor types and 14,524 controls from 25 published case-control studies to estimate the effect of SNP309 on tumor risk, as well as to quantify the potential between-study heterogeneity. We found that variant homozygote 309GG was associated with a significantly increased risk of all types of tumors [homozygote comparison: odds ratio (OR), 1.17, 95% confidential interval (95% CI), 1.04-1.33, P = 0.0002 for heterogeneity test; recessive model comparison: OR, 1.15, 95% CI, 1.03-1.28, P = 0.0005 for heterogeneity test]. Tumor type and ethnicity contributed to the substantial heterogeneity (69.5% for homozygote comparison and 77.2% for recessive model comparison). The analyses suggest that MDM2 SNP309 serves as a low-penetrance susceptibility tumor marker. Further large studies incorporate quantitative detection of different p53-responsible environmental stresses, p53 mutation status, and also functional genetic variants in p53-MDM2-related genes are warranted.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers, Tumor / genetics*
  • Case-Control Studies
  • Genetic Predisposition to Disease*
  • Humans
  • Neoplasms / genetics*
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic / genetics*
  • Proto-Oncogene Proteins c-mdm2 / genetics*
  • Risk Factors

Substances

  • Biomarkers, Tumor
  • MDM2 protein, human
  • Proto-Oncogene Proteins c-mdm2