Association of polymorphism of coding genes IL-10 and IL-12 with the risk of Helicobacter pylori infection

Background The host's immune response to Helicobacter pylori ( H. pylori ) infection is largely determined by its cytokine profile. Genetic variations within crucial immunomodulatory genes, including those for IL-10 and IL-12, are thought to influence an individual's vulnerability to the infection and its clinical consequences by modifying cytokine production. Nonetheless, research data derived from diverse human populations continue to show inconsistent results. Aim This case-control analysis sought to examine a potential link between H. pylori infection susceptibility in an Iranian population and specific genetic variants in the IL-10 (-1082G > A, -819C > T) and IL-12 (+ 1188A > C) genes. Methods In this investigation, 68 individuals with confirmed H. pylori infection diagnosed by a positive rapid urease test and elevated anti- H. pylori IgG levels exceeding 90 ng/ml via ELISA were enrolled alongside 68 healthy controls. The control group was carefully matched to the patient group based on age, sex, and ethnic background. Genotyping for the IL-10 (-1082G > A, -819C > T) and IL-12 (+ 1188A > C) polymorphisms was conducted using the Amplification Refractory Mutation System-PCR (ARMS-PCR) method. To evaluate associations, the distribution of genotypes and alleles between the groups was contrasted using logistic regression, applying additive, dominant, and recessive inheritance models. The strength of any association was expressed as odds ratios (ORs) accompanied by 95% confidence intervals (CIs). Results The analysis revealed no statistically significant correlations linking the investigated IL-10 and IL-12 gene variants to an increased predisposition for H. pylori infection. Regarding the IL-10 -1082G > A locus, the AA genotype was associated with a marginally elevated risk estimate; however, this finding was not statistically significant (OR = 3.45, 95% CI: 0.29–41.36; p  = 0.327). Likewise, for the IL-12 + 1188A > C polymorphism, the CC genotype, while more prevalent in the patient cohort, also demonstrated no significant association with infection risk (OR = 1.43, 95% CI: 0.42–4.87; p  = 0.567). Furthermore, it was noted that the genotype distributions for all evaluated polymorphisms within the control group departed from Hardy-Weinberg equilibrium. Conclusion This investigation did not establish a significant link between the specific IL-10 and IL-12 gene variants analyzed and susceptibility to H. pylori infection in the studied population. Although minor genetic associations were noted, they lacked statistical significance. Future research with larger sample sizes is required to validate these results and to investigate additional genetic determinants that may affect infection risk.