TABLE 4.

Genetic polymorphisms and H. pylori infection

Polymorphism siteEffectAssociation with H. pylori infectionReference(s)
Immune mediators
    IL-1 gene clusterIL-1B*-511T, IL-1B*-31C, and IL-1RN*2/*2 result in higher IL-1B expressionHigher expression of IL-1B results in a proinflammatory response coupled to hypochlorhydria, pangastritis, and increased risk of atrophic gastritis and gastric cancer 156, 157, 159, 208, 283, 383, 517, 715
    IL-8 (−251A/T)Presence of the −251A allele results in increased expression of IL-8In a Japanese population, increased risk of gastric cancer and gastric ulcer; in a Hungarian population, increased risk of duodenal ulcers 247, 250, 377
    IL-10 (ATA/GCC haplotypes)GCC haplotype results in increased expression of IL-10GCC haplotype is associated with colonization by more-virulent H. pylori strains (cagA+, vacA s1+, and babA2+); ATA haplotype is associated with increased risk of gastric cancer 159, 250, 264, 377, 515, 697, 714
    TNF-ATNF-A*-308A allele is associated with increased TNF-α expression and increased gastrin expressionTNF-A*-308A is associated with higher levels of H. pylori infection and increased risk of gastric cancer 159, 252, 365, 375, 383, 696, 708, 714
    MPOMPO*-463A allele is associated with low-level expression of myeloperoxidaseMPO*-463A genotype is associated with lower H. pylori infection rates 251
Other
    CD14CD14*-159T polymorphism results in elevated expression of CD14CD14*-159T genotype is associated with higher H. pylori infection rates 301, 319
    TLR4TLR4*Asp299Gly results in diminished immune responseTLR4*Asp299Gly allele may be involved in development of gastric MALT lymphoma 263
    FUT2 and FUT3Polymorphisms in the fucosyltransferase genes affect synthesis of Lewis antigensFUT2 secretor (Se) and FUT3 le/le genotypes increase risk of H. pylori infection 284, 559
    CYP2C19Polymorphisms in cytochrome P450 influence metabolism of compounds such as antibiotics and PPIsCYP2C19 polymorphism negatively affects eradication rates of H. pylori antibiotic treatment 209-211, 315, 537, 538
    GST t1/m1GST t1 null and m1 null alleles are associated with decreased antioxidative capacityGST t1 null genotype is associated with increased risk of gastric cancer and gastric lymphoma 86, 304, 305, 484, 530, 560, 711