title: Investigation of -308G>A and -1031T>C polymorphisms in the TNFA promoter region in Polish peptic ulcer patients.
abstract: OBJECTIVE
  Tumor necrosis factor α (TNF-α) encoded by TNFA is a key mediator in inflammation, a precursor condition for peptic ulceration. Promoter polymorphisms of TNFA that influence its transcriptional activity and TNF-α production are known. TNFA-308G>A (rs1800629) and TNFA-1031T>C (rs1799964), which are responsible for increased TNFA transcription, could influence the risk of peptic ulceration. This study aimed to investigate these polymorphisms and to evaluate their association with peptic ulcer disease and Helicobacter pylori infection in the Polish population.
  
  
  METHODS
  Gastric mucosa specimens obtained from 177 Polish peptic ulcer patients were used to conduct rapid urease tests and to assess the investigated polymorphisms by polymerase chain reaction-restriction fragment length polymorphism. Genotyping data were compared with the results obtained from healthy individuals of Polish origin.
  
  
  RESULTS
  There were no significant differences in genotype and allele frequency of the investigated polymorphisms between peptic ulcer patients and healthy individuals. No associations between the frequencies of particular genotypes and alleles for both single-nucleotide polymorphisms (SNPs) and the presence of H. pylori infection in peptic ulcer patients and in subgroups of men and women with peptic ulcer disease were found.
  
  
  CONCLUSIONS
  The investigated SNPs are not risk factors for either peptic ulcer or H. pylori infection development in the Polish population. The results require verification in a larger cohort.
authors.affiliation: Laboratory of Molecular Diagnostics and Pharmacogenomics, Department of Pharmaceutical Biochemistry, Medical University of Lodz, Lodz, Poland.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Sałagacka
authors.affiliation: Laboratory of Molecular Diagnostics and Pharmacogenomics, Department of Pharmaceutical Biochemistry, Medical University of Lodz, Lodz, Poland.
authors.forename: Marta
authors.initials: M
authors.lastname: Żebrowska
authors.affiliation: Laboratory of Molecular Diagnostics and Pharmacogenomics, Department of Pharmaceutical Biochemistry, Medical University of Lodz, Lodz, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Jeleń
authors.affiliation: Laboratory of Molecular Diagnostics and Pharmacogenomics, Department of Pharmaceutical Biochemistry, Medical University of Lodz, Lodz, Poland.
authors.forename: Marek
authors.initials: M
authors.lastname: Mirowski
authors.affiliation: Laboratory of Molecular Diagnostics and Pharmacogenomics, Department of Pharmaceutical Biochemistry, Medical University of Lodz, Lodz, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Balcerczak
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D005260:Female; D005753:Gastric Mucosa / Q000378:metabolism* / Q000382:microbiology; D020022:Genetic Predisposition to Disease; D005838:Genotype; D016481:Helicobacter Infections / Q000150:complications / Q000235:genetics*; D016480:Helicobacter pylori; D006801:Humans; D008297:Male; D008875:Middle Aged; D010437:Peptic Ulcer / Q000150:complications / Q000235:genetics*; D011044:Poland; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*; D044465:White People / Q000235:genetics; D055815:Young Adult
chemical_list: D014409:Tumor Necrosis Factor-alpha
keywords: Genetic polymorphism; Peptic ulcer; Restriction fragment length polymorphism; Tumor necrosis factor-alpha