title: FAS/FASL gene polymorphisms in Turkish patients with chronic myeloproliferative disorders.
abstract: BACKGROUND
  Chronic myeloproliferative disorders (CMPD) are chronic myeloid hematological disorders, characterized by increased myeloid cell proliferation and fibrosis. Impaired apoptotic mechanisms, increased cell proliferation, uncontrolled hematopoietic cell proliferation and myeloaccumulation may contribute to the pathogenesis of CMPD. The aim of our study was to show the possible role of FAS/FASL gene polymorphisms in CMPD pathogenesis and investigate the association with clinical parameters and susceptibility to disease.
  
  
  METHODS
  We included 101 (34 polycythemia vera (PV), 23 primary myelofibrosis (PMF), 44 essential thrombocythemia (ET)) CMPD patients diagnosed according to the WHO classification criteria and 95 healthy controls in this study. All the patients and the controls were investigated for FAS/FASL gene expression, allele frequencies and phenotype features, and also FAS mRNA levels were analyzed.
  
  
  RESULTS
  Chronic myeloproliferative disorders patients showed increased FAS-670AG + GG genotype distribution compared with the control group (p< 0.05). While the A allele was more frequent in both groups, AG genotype was more frequent in CMPD patients. There was no association between FAS-670A>G gene polymorphism and some clinical parameters such as splenomegaly and thrombosis (p> 0.05). No statistically significant difference in FASL+843C>T genotype or allele frequency was found between groups (p> 0.05). Moreover, no statistically significant difference was detected in FASL and JAK2V617F mutations (p> 0.05). FAS mRNA expression was 1.5-fold reduced in patients compared to healthy subjects.
  
  
  CONCLUSIONS
  According to our findings, FAS/FASL gene expression may contribute to the molecular and immunological pathogenesis of CMPD. More investigations are needed to support these data.
authors.affiliation: Department of Hematology, Atatürk Research and Education Hospital, Izmir Katip Çelebi University, Izmir, Turkey.
authors.forename: Fusun Gediz
authors.initials: FG
authors.lastname: Ozdemirkiran
authors.affiliation: Department of Molecular Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
authors.forename: Sinem
authors.initials: S
authors.lastname: Nalbantoglu
authors.affiliation: Department of Hematology, Baskent University, Adana, Turkey.
authors.forename: Zafer
authors.initials: Z
authors.lastname: Gokgoz
authors.affiliation: Department of Hematology, Atatürk Research and Education Hospital, Izmir Katip Çelebi University, Izmir, Turkey.
authors.forename: Bahriye Kadriye
authors.initials: BK
authors.lastname: Payzin
authors.affiliation: Department of Hematology, Faculty of Medicine, Ege University, Izmir, Turkey.
authors.forename: Filiz
authors.initials: F
authors.lastname: Vural
authors.affiliation: Department of Hematology, Izmir Medical Park Hospital, Izmir, Turkey.
authors.forename: Seckin
authors.initials: S
authors.lastname: Cagirgan
authors.affiliation: Department of Molecular Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
authors.forename: Afig
authors.initials: A
authors.lastname: Berdeli
keywords: FAS/FASL; chronic myeloproliferative disorders; gene polymorphism