title: XRCC3 Thr241Met and XPD Lys751Gln gene polymorphisms and risk of clear cell renal cell carcinoma.
abstract: BACKGROUND
  In the last decade, an increasing number of polymorphisms in DNA repair genes have been identified and their involvement in carcinogenesis was studied. Despite the fact that XRCC3 and XPD DNA repair genes association with several types of cancer was widely studied, their role in the development of clear cell renal cell carcinoma (CCRCC) has not been established in the European population.
  
  
  OBJECTIVE
  The objective of this study was to investigate the association of XRCC3 Thr241Met and XPD Lys751Gln gene polymorphisms with the risk of CCRCC and the association between these genotypes and CCRCC histopathological prognostic factors (pathologic stage, Fuhrman grade, tumor diameter).
  
  
  METHODS
  This study included 73 patients with CCRCC and 100 healthy individuals without cancer. We used the PCR-RFLP method to determine XRCC3 and XPD genotypes.
  
  
  RESULTS
  The XPD 751 variant genotype (Lys/Gln) was more frequent in CCRCC patients than in healthy individuals (OR = 2.92, 95%CI: 1.47-5.79, p= 0.001). Regarding the XRCC3 Thr241Met/XPD Lys751Gln combined genotypes a significant difference was found between patients and controls for Thr/Thr+Lys/Gln (OR = 5.44, 95%CI: 2.09-14.15, p= 0.0003) and for Thr/Met+Gln/Gln (OR = 11.2, 95%CI: 1.95-100.4, p= 0.01).No association was found between any of the studied genotypes and histopathological prognostic factors of CCRCC.
  
  
  CONCLUSIONS
  Our findings indicate that XPD Lys751Gln polymorphism may be a risk factor for CCRCC. Regarding the XRCC3 Thr241Met polymorphism, an association with CCRCC was found only in XRCC3 Thr241Met/XPD Lys751Gln combined genotypes.
authors.affiliation: Department of Histology, University of Medicine and Pharmacy Tirgu Mures, Romania.
authors.forename: Andrada
authors.initials: A
authors.lastname: Loghin
authors.affiliation: Department of Medical Genetics, University of Medicine and Pharmacy Tirgu Mures, Romania.
authors.forename: Claudia
authors.initials: C
authors.lastname: Bănescu
authors.affiliation: Department of Histology, University of Medicine and Pharmacy Tirgu Mures, Romania.
authors.forename: Adela
authors.initials: A
authors.lastname: Nechifor-Boila
authors.affiliation: Department of Urology, University of Medicine and Pharmacy Tirgu Mures, Romania.
authors.forename: Calin
authors.initials: C
authors.lastname: Chibelean
authors.affiliation: Department of Urology, University of Medicine and Pharmacy Tirgu Mures, Romania.
authors.forename: Martha
authors.initials: M
authors.lastname: Orsolya
authors.affiliation: Department of Urology, University of Medicine and Pharmacy Tirgu Mures, Romania.
authors.forename: Alin
authors.initials: A
authors.lastname: Nechifor-Boila
authors.affiliation: Department of Medical Genetics, University of Medicine and Pharmacy Tirgu Mures, Romania.
authors.forename: Florin
authors.initials: F
authors.lastname: Tripon
authors.affiliation: Department of Epidemiology, University of Medicine and Pharmacy Tirgu Mures, Romania.
authors.forename: Septimiu
authors.initials: S
authors.lastname: Voidazan
authors.affiliation: Department of Histology, University of Medicine and Pharmacy Tirgu Mures, Romania.
authors.forename: Angela
authors.initials: A
authors.lastname: Borda
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D019943:Amino Acid Substitution; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D003062:Codon; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D060787:Neoplasm Grading; D009367:Neoplasm Staging; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
chemical_list: D003062:Codon; D004268:DNA-Binding Proteins; C110901:X-ray repair cross complementing protein 3; D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human
keywords: DNA repair genes; Gene polymorphisms; XPD; XRCC3; clear cell renal cell carcinoma