Association of CYP2C19, TNF-α, NOD1, NOD2, and PPARγ polymorphisms with peptic ulcer disease enhanced by Helicobacter pylori infection

Saudi Med J. 2021 Jan;42(1):21-29. doi: 10.15537/smj.2021.1.25654.


Objectives: To assess the correlation between a number of genetic variations of CYP2C19, TNF-α, NOD1, NOD2, and PPARγ genes with the severity of Helicobacter pylori (H. pylori) infections and peptic ulcers (PU).

Methods: A retrospective cross-sectional design was used in this study. Formalin-fixed paraffin-embedded (FFPE) tissue was used to extract genomic DNA that was collected from Jordanian patients who visited endoscopy clinics between 2014 to 2018 at the King Abdullah University Hospital (KAUH), Irbid, Jordan. Genotyping of the studied single nucleotide polymorphisms (SNPs) were applied using the sequencing protocol. Results: A total of 251 patients (mean age: 42.12 ± 16.09 years) and healthy controls (mean age: 52.76 ± 19.45 years) were enrolled in this study. This study showed no significant association between patients and the studied polymorphisms except for rs2075820 of the NOD1 (p=0.0046). It is hypothesized that the heterozygous genotype (TC); 44.8% in patients versus 61.3% in controls has a decreased risk of peptic ulcers (OR: 0.49). The alleles frequency association was insignificant in all studied SNPs with a p-value more than 0.05.

Conclusion: This study provided evidence regarding the association of the rs2075820 with H. pylori infections. The other studied SNPs were not statistically significant.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Cross-Sectional Studies
  • Cytochrome P-450 CYP2C19 / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Genotyping Techniques / methods
  • Helicobacter Infections / complications*
  • Helicobacter pylori*
  • Humans
  • Jordan
  • Male
  • Middle Aged
  • Nod1 Signaling Adaptor Protein / genetics*
  • Nod2 Signaling Adaptor Protein / genetics*
  • PPAR gamma / genetics*
  • Paraffin Embedding
  • Peptic Ulcer / etiology*
  • Peptic Ulcer / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Retrospective Studies
  • Tumor Necrosis Factor-alpha / genetics*
  • Young Adult


  • NOD1 protein, human
  • NOD2 protein, human
  • Nod1 Signaling Adaptor Protein
  • Nod2 Signaling Adaptor Protein
  • PPAR gamma
  • Tumor Necrosis Factor-alpha
  • CYP2C19 protein, human
  • Cytochrome P-450 CYP2C19