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

Autor: M. A. Solodilova, Alexander A Stepchenko, Alexey Polonikov, Inessa O Kolchanova, Margarita P Tutochkina, Dmitry A Belugin, I. V. Khoroshaya, Vladimir P. Ivanov
Rok vydání: 2007
Předmět:
Zdroj: Journal of gastroenterology and hepatology. 22(4)
ISSN: 0815-9319
Popis: Background and Aim: Transforming growth factor- β 1 (TGF- β 1) 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- β 1 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- β 1 gene polymorphisms by polymerase chain reaction-restriction fragment length polymor- phism (PCR-RFLP). Results: Leu10Pro substitution in the signal peptide of TGF- β 1 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- β 1 gene between patients with duodenal ulcer and healthy controls has been found. Polymor- phism Leu10Pro was in positive linkage disequilibrium with C-509T polymorphism (coef- ficient D = 0.191; P < 0.0001). Conclusions: These findings indicate that the Leu10Pro and C-509T polymorphisms may be involved in the modulation of expression of the TGF- β 1 gene, and therefore a predispo- sition to peptic ulcer disease could be linked to particular alleles of this gene. In particular, a possible role of TGF- β 1 in the pathogenesis of gastric ulcer disease is discussed.
Databáze: OpenAIRE