Analysis of common transforming growth factor beta-1 gene polymorphisms in gastric and duodenal ulcer disease: Pilot study

Background and Aim: Transforming growth factor‐β1 (TGF‐β1) has been shown to be an important cytokine that plays a role in cell proliferation, differentiation, tissue injury repair and ulcer healing. The purpose of this pilot study was to investigate if common polymorphisms Leu10Pro, Arg25Pro and C‐509T within the TGF‐β1 gene are associated with susceptibility to gastric and duodenal ulcer disease in Russians. Method: Blood samples from 377 unrelated patients with gastric and duodenal ulcer disease and 226 sex‐ and age‐matched healthy controls were used to determine TGF‐β1 gene polymorphisms by polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP). Results: Leu10Pro substitution in the signal peptide of TGF‐β1 has been found to be associated with susceptibility to gastric ulcer (odds ratio [OR] 1.76, 95% confidence interval [CI] 1.12–2.77). A genotype combination of 10Leu/Leu × 25Arg/Arg × −509C/C was also associated with susceptibility to gastric ulcer disease (OR 1.81, P = 0.01). In addition, the frequency of a combination of genotypes 10Pro/Pro × 25Arg/Pro × −509C/T was statistically lower in patients with duodenal ulcer than in controls (OR 0.42, P = 0.05). A significant difference (P = 0.04) in the distribution of rare haplotypes of the TGF‐β1 gene between patients with duodenal ulcer and healthy controls has been found. Polymorphism Leu10Pro was in positive linkage disequilibrium with C‐509T polymorphism (coefficient D = 0.191; P