title: Thiopurine S-methyltransferase genotype and the use of thiopurines in paediatric inflammatory bowel disease Greek patients.
abstract: OBJECTIVE
  Azathioprine (AZA) and 6-mercaptopurine (6MP) are used in the treatment of paediatric inflammatory bowel disease (IBD). Genetic variations in thiopurine S-methyltranfarase (TPMT) gene have been correlated with enzyme activity and with the occurrence of adverse events to AZA and 6MP. The aim of the present study was to investigate the frequency of the functional TPMT polymorphisms and their association with the occurrence of adverse events during azathioprine therapy in a paediatric IBD cohort.
  
  
  METHODS
  Ninety-seven thiopurine-treated paediatric IBD patients (41.24% boys and 58.76% girls) with a mean age 11.25 years (range 3-16), were assessed for TPMT polymorphisms and adverse events.
  
  
  RESULTS
  Of the 97 patients enrolled in the study, 18 (18.56%) were heterozygous mutated; two (2.06%) were homozygous for a mutated TPMT gene. Ten patients (10.31%) developed adverse effects, and four of them (40%) had one of the variant alleles.
  
  
  CONCLUSIONS
  In this small cohort of subjects, no association was found between TPMT polymorphisms and the occurrence of thiopurines-related adverse events.
authors.affiliation: Department of Biology, School of Medicine, University of Athens, Athens, Greece.
authors.forename: M
authors.initials: M
authors.lastname: Gazouli
authors.forename: I
authors.initials: I
authors.lastname: Pachoula
authors.forename: I
authors.initials: I
authors.lastname: Panayotou
authors.forename: G
authors.initials: G
authors.lastname: Mantzaris
authors.forename: V P
authors.initials: VP
authors.lastname: Syriopoulou
authors.forename: N
authors.initials: N
authors.lastname: Goutas
authors.forename: D
authors.initials: D
authors.lastname: Vlachodimitropoulos
authors.forename: N P
authors.initials: NP
authors.lastname: Anagnou
authors.forename: E
authors.initials: E
authors.lastname: Roma-Giannikou
mesh_terms: D000293:Adolescent; D000483:Alleles; D001379:Azathioprine / Q000009:adverse effects* / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D006115:Greece; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007166:Immunosuppressive Agents / Q000009:adverse effects* / Q000627:therapeutic use; D015212:Inflammatory Bowel Diseases / Q000097:blood / Q000188:drug therapy*; D008297:Male; D015122:Mercaptopurine / Q000009:adverse effects* / Q000627:therapeutic use; D008780:Methyltransferases / Q000235:genetics*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D007166:Immunosuppressive Agents; D015122:Mercaptopurine; D008780:Methyltransferases; C022745:thiopurine methyltransferase; D001379:Azathioprine