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Significant Association of DNASE1 Variable Number Tandem Repeats and Single Nucleotide Polymorphisms With Gastric

Ali Kafil1, Parisa Mohamadynejad1, Mehdi Moghanibashi2

  • 1Department of Biology, Faculty of Basic Sciences, Shahrekord Branch, Islamic Azad University, Shahrekord, Iran.

British Journal of Biomedical Science
|August 23, 2022
PubMed

Insights

Genetic variations in the DNASE1 gene, specifically in exon 8 and intron 4, are linked to an increased risk of gastric cancer. These DNASE1 polymorphisms may serve as potential diagnostic markers for this disease.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Defects in apoptosis are crucial in cancer development.
  • DNASE1, a component of the apoptotic machinery, is implicated in various cancers.
  • Previous research shows population-specific differences in DNASE1 polymorphisms.

Purpose of the Study:

  • To investigate the association between two specific DNASE1 gene polymorphic sites (exon 8 and intron 4) and gastric cancer risk.
  • To determine if these polymorphisms can serve as diagnostic markers for gastric cancer.

Main Methods:

  • Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism PCR (RFLP-PCR) were employed.
  • The study included 120 gastric cancer patients and 120 age- and sex-matched controls.

Main Results:

  • The GG genotype at rs1053874 in exon 8 of DNASE1 was significantly associated with gastric cancer (OR=4.65, p<0.001).
  • Genotype 2/3 of the variable number tandem repeat (VNTR) in intron 4 of DNASE1 was also linked to gastric cancer (OR=3.75, p=0.003).

Conclusions:

  • Both studied polymorphic sites in the DNASE1 gene are associated with gastric cancer.
  • These DNASE1 polymorphisms show potential as diagnostic markers for gastric cancer.
Keywords:
DNASE1 geneVNTRexongastric cancerintronpolymorphism

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