title: Investigation of ABCB1 1236 and 2677 SNPs in patients with peptic ulcer.
abstract: OBJECTIVE
  P-gp, encoded by ABCB1 gene, is an ATP-binding membrane pump, which exports substrates from the cell including drugs and xenobiotics. Changes in the function of P-gp as a result of polymorphism could have an impact in some diseases' risks and treatment outcomes. The aim of the study was to determine the significance of the ABCB1 gene SNPs: 1236 and 2677 for peptic ulcer risk and development of Helicobacter pylori infection in peptic ulcer patients.
  
  
  METHODS
  One hundred and ninety-five biopsy specimens obtained from peptic ulcer patients (investigated group) were genotyped using sequencing for common SNPs of ABCB1: 1236 and 2677. Genotyping data were compared with the results from healthy subjects (control) and with the presence of H. pylori infection, which was estimated by urease test.
  
  
  RESULTS
  No statistically significant difference in frequency of genotypes and alleles for the SNPs were found between the investigated group and the control. However, in the peptic ulcer patients, mutant TT homozygotes and those who carried at least one allele T for the polymorphisms 1236 and 2677 were observed more frequently than the control group. In the peptic ulcer group, there were no significant dependences between the presence of H. pylori infection and the investigated polymorphisms other than more frequent occurrence of TT 1236 homozygous in the group of infected women (p = 0.0298).
  
  
  CONCLUSIONS
  The TT genotype and the mutated allele T for the polymorphisms 1236 and 2677 could increase peptic ulcer risk. ABCB1 1236 polymorphism may also be associated with an increased likelihood of H. pylori infection development, especially in women.
authors.affiliation: Department of Pharmaceutical Biochemistry, Medical University of Łódź, Laboratory of Molecular Biology and Pharmacogenomics, Łódź, Poland.
authors.forename: Marta
authors.initials: M
authors.lastname: Żebrowska
authors.forename: Marcin
authors.initials: M
authors.lastname: Jażdżyk
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Sałagacka
authors.forename: Mariusz
authors.initials: M
authors.lastname: Balcerczak
authors.forename: Robert
authors.initials: R
authors.lastname: Janiuk
authors.forename: Marek
authors.initials: M
authors.lastname: Mirowski
authors.forename: Ewa
authors.initials: E
authors.lastname: Balcerczak
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D005260:Female; D005753:Gastric Mucosa / Q000737:chemistry; D005787:Gene Frequency; D005838:Genotype; D016481:Helicobacter Infections / Q000175:diagnosis / Q000235:genetics* / Q000382:microbiology; D016480:Helicobacter pylori; D006801:Humans; D008297:Male; D008875:Middle Aged; D010437:Peptic Ulcer / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014510:Urease / Q000032:analysis; D055815:Young Adult
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1; D014510:Urease