Role of interstitial collagenase gene promoter polymorphism in the etiology of gastric cancer

Saudi J Gastroenterol. Sep-Oct 2014;20(5):309-14. doi: 10.4103/1319-3767.141693.


Background/aims: Gastric cancer (GC) is a multifactorial disorder mediated by genetic, epigenetic, and environmental risk factors. GC is the most common cancer in India and it is the third prominent cause of cancer death worldwide. A single nucleotide polymorphism (SNP) in the promoter region of interstitial collagenase (MMP-1) gene appears to have an impact on the transcriptional activity and regulation of its expression. Hence, the present study is aimed to evaluate the role of interstitial collagenase gene-1607 1G/2G (rs1799750) promoter polymorphism in the etiology of GC.

Patients and methods: The study included 166 GC patients and 202 control subjects. Genomic DNA was isolated from whole blood samples of the subjects, and the genotyping of interstitial collagenase promoter polymorphism was carried out by polymerase chain reaction-restriction fragment length polymorphism method followed by agarose gel electrophoresis. Appropriate statistical methods were applied to test the significance of the results.

Results: The risk factor profile of the patients revealed that male gender, age above 50 years, addiction to alcohol and smoking were the most common risk factors (P < 0.05). There was a significant difference in the distribution of 2G/2G genotype (2G/2G vs. 1G/1G, P = 0.016) and 1G/2G genotype (2G/2G + 1G/2G vs. 1G/1G, P = 0.010) in patient group compared with that of the control subjects.

Conclusion: The present study provides indirect evidence for the role of interstitial collagenase gene 1G/2G promoter polymorphism in the etiology of GC in South Indian population.

MeSH terms

  • Case-Control Studies
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • India
  • Male
  • Matrix Metalloproteinase 1 / genetics*
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic
  • Risk Factors
  • Stomach Neoplasms / genetics*


  • Matrix Metalloproteinase 1