title: The effect of tobacco, XPC, ERCC2 and ERCC5 genetic variants in bladder cancer development.
abstract: BACKGROUND
  In this work, we have conducted a case-control study in order to assess the effect of tobacco and three genetic polymorphisms in XPC, ERCC2 and ERCC5 genes (rs2228001, rs13181 and rs17655) in bladder cancer development in Tunisia. We have also tried to evaluate whether these variants affect the bladder tumor stage and grade.
  
  
  METHODS
  The patients group was constituted of 193 newly diagnosed cases of bladder tumors. The controls group was constituted of non-related healthy subjects. The rs2228001, rs13181 and rs17655 polymorphisms were genotyped using a polymerase chain reaction-restriction fragment length polymorphism technique.
  
  
  RESULTS
  Our data have reported that non smoker and light smoker patients (1-19PY) are protected against bladder cancer development. Moreover, light smokers have less risk for developing advanced tumors stage. When we investigated the effect of genetic polymorphisms in bladder cancer development we have found that ERCC2 and ERCC5 variants were not implicated in the bladder cancer occurrence. However, the mutated homozygous genotype for XPC gene was associated with 2.09-fold increased risk of developing bladder cancer compared to the control carrying the wild genotype (p = 0.03, OR = 2.09, CI 95% 1.09-3.99). Finally, we have found that the XPC, ERCC2 and ERCC5 variants don't affect the tumors stage and grade.
  
  
  CONCLUSIONS
  These results suggest that the mutated homozygous genotype for XPC gene was associated with increased risk of developing bladder. However we have found no association between rs2228001, rs13181 and rs17655 polymorphisms and tumors stage and grade.
authors.affiliation: Laboratory of Genetic, Immunology and Human Pathology, Faculty of Sciences of Tunis, University of El Manar I. Tunis, Tunisia.
authors.forename: Kamel
authors.initials: K
authors.lastname: Rouissi
authors.forename: Islem Ben
authors.initials: IB
authors.lastname: Bahria
authors.forename: Karim
authors.initials: K
authors.lastname: Bougatef
authors.forename: Raja
authors.initials: R
authors.lastname: Marrakchi
authors.forename: Nejla
authors.initials: N
authors.lastname: Stambouli
authors.forename: Khouloud
authors.initials: K
authors.lastname: Hamdi
authors.forename: Mohamed
authors.initials: M
authors.lastname: Cherif
authors.forename: Mohamed Riadh
authors.initials: MR
authors.lastname: Ben Slama
authors.forename: Mohamed
authors.initials: M
authors.lastname: Sfaxi
authors.forename: Fethi Ben
authors.initials: FB
authors.lastname: Othman
authors.forename: Mohamed
authors.initials: M
authors.lastname: Chebil
authors.forename: Amel Benammar
authors.initials: AB
authors.lastname: Elgaaied
authors.forename: Slah
authors.initials: S
authors.lastname: Ouerhani
mesh_terms: D000368:Aged; D002277:Carcinoma / Q000235:genetics / Q000473:pathology*; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D004198:Disease Susceptibility; D004720:Endonucleases / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging; D009538:Nicotine / Q000494:pharmacology; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D020641:Polymorphism, Single Nucleotide / Q000502:physiology*; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D001749:Urinary Bladder Neoplasms / Q000235:genetics / Q000473:pathology*; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D000099250:DNA Excision Repair Protein ERCC-5
chemical_list: D004268:DNA-Binding Proteins; D004720:Endonucleases; D009538:Nicotine; D009687:Nuclear Proteins; D014157:Transcription Factors; D051759:Xeroderma Pigmentosum Group D Protein; D000099250:DNA Excision Repair Protein ERCC-5; C086984:XPC protein, human; C497292:ERCC2 protein, human