title: The role of CYP2D6*4 variant in bladder cancer susceptibility in Tunisian patients.
abstract: CYP2D6 enzyme is implicated in the metabolism of drugs and nicotine. Genetic variability within CYP2D6, results in different CYP2D6 phenotypes. Inheritance of polymorphic CYP2D6 metabolizing enzyme is likely to be an important determinant of inter-individual variations in susceptibility to cancer. In this work, we have conducted a case control study in order to assess the role of CYP2D6*4 variant in bladder cancer development in a Tunisian cohort. A total of 80 patients with TCC of bladder cancer and 109 healthy controls were included in the present study. The frequency of CYP2D6*4 allele, characterized by loss of BstNI site, was observed in 8.25% of healthy volunteers and in 10.62% of patients. The CYP2D6*4/CYP2D6*4 genotype was observed in only 2.75% of controls and was absent in cases. In all group of patients, the CYP2D6*4 allele did not appear to influence bladder cancer susceptibility (p > 0.05). A similar result was obtained when we stratified cases group according to tobacco status. Conversely, patients carrying the BstNI site at the homozygous state, mostly combined as homozygous wild genotype, could be at more risk of bladder cancer invasiveness than those having the heterozygous genotype.
authors.affiliation: Laboratoire de génétique, immunologie et pathologies humaines, Faculté des Sciences, El Mannar I, 2092 Tunis, Tunisia. slah_mekni@yahoo.fr
authors.forename: Slah
authors.initials: S
authors.lastname: Ouerhani
authors.forename: Raja
authors.initials: R
authors.lastname: Marrakchi
authors.forename: Rym
authors.initials: R
authors.lastname: Bouhaha
authors.forename: Mohamed Riadh
authors.initials: MR
authors.lastname: Ben Slama
authors.forename: Mohamed
authors.initials: M
authors.lastname: Sfaxi
authors.forename: Mohsen
authors.initials: M
authors.lastname: Ayed
authors.forename: Mohamed
authors.initials: M
authors.lastname: Chebil
authors.forename: Amel Ben Ammar
authors.initials: AB
authors.lastname: El Gaaied
mesh_terms: D000368:Aged; D000483:Alleles; D002295:Carcinoma, Transitional Cell / Q000235:genetics*; D016022:Case-Control Studies; D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D012306:Risk; D012907:Smoking / Q000009:adverse effects; D014416:Tunisia; D001749:Urinary Bladder Neoplasms / Q000235:genetics*
chemical_list: D019389:Cytochrome P-450 CYP2D6