title: Investigation of DNA repair gene variants on myelodysplastic syndromes in a Turkish population.
abstract: The aim of this study was to assess the possible influence of genetic polymorphisms in hOGG1, XRCC1, XRCC3, XPD, XPG and APE1 on the observed DNA damage in a group of Turkish myelodysplastic syndrome (MDS) patients. A total of 39 patients with myelodysplastic syndrome and 78 age-matched healthy control subjects were included in our study. Polymerase chain reaction/restriction fragment length polymorphism analysis was performed for the detection of DNA repair gene variants. No significant differences in DNA repair enzymes APE1, XRCC1 and XPG were found between MDS patients and controls. On the other hand, XRCC3, XPD and hOGG1 were associated with an increased risk of MDS (p=0.004, p=0.000, p=0.017, respectively). Specifically, Thr/Met genotype was more relevant in patients (p=0.026) in XRCC3; in hOGG1, Cys+ genotype was found higher in patients (p=0.017); and in XPD, Gln/Gln genotypes were found higher in the patient (p=0.001). In conclusion, XRCC3, XPD and hOGG1 genotypes are associated with an increased MDS risk, suggesting their possible involvement in the pathogenesis and biology of this disease.
authors.affiliation: Department of Internal Medicine, Istanbul Haseki Training and Research Hospital, Istanbul, Turkey, lifeiner@yahoo.com.
authors.forename: Mehmet Burak
authors.initials: MB
authors.lastname: Aktuglu
authors.forename: Mesut
authors.initials: M
authors.lastname: Ayer
authors.forename: Elif S
authors.initials: ES
authors.lastname: Bireller
authors.forename: Cagla
authors.initials: C
authors.lastname: Rencuzogullari
authors.forename: Hasan
authors.initials: H
authors.lastname: Acik
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Karaali
authors.forename: Taner
authors.initials: T
authors.lastname: Alioglu
authors.forename: Namik
authors.initials: N
authors.lastname: Yigit
authors.forename: Mustafa
authors.initials: M
authors.lastname: Velet
authors.forename: Eray
authors.initials: E
authors.lastname: Atalay
authors.forename: Oznur Sari
authors.initials: OS
authors.lastname: Ure
authors.forename: Bedia
authors.initials: B
authors.lastname: Cakmakoglu
mesh_terms: D000328:Adult; D045647:DNA Glycosylases / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics*; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D004720:Endonucleases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D014157:Transcription Factors / Q000235:genetics*; D014421:Turkey; D000076105:X-ray Repair Cross Complementing Protein 1; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*; D000099250:DNA Excision Repair Protein ERCC-5
chemical_list: D045647:DNA Glycosylases; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase; D004268:DNA-Binding Proteins; D004720:Endonucleases; D009687:Nuclear Proteins; D014157:Transcription Factors; D000076105:X-ray Repair Cross Complementing Protein 1; D051759:Xeroderma Pigmentosum Group D Protein; D000099250:DNA Excision Repair Protein ERCC-5; C110901:X-ray repair cross complementing protein 3; C000619371:XRCC1 protein, human; C479058:oxoguanine glycosylase 1, human; C085108:APEX1 protein, human; C497292:ERCC2 protein, human