title: DNA repair gene ERCC2, XPC, XRCC1, XRCC3 polymorphisms and associations with bladder cancer risk in a French cohort.
abstract: In polygenic diseases, association studies look for genetic variation such as polymorphisms in low penetrance genes, i.e. genes in interaction with environmental factors. DNA repair systems that protect the genome from deleterious endogenous and exogenous damage have been shown to significantly reduce activity. In particular, enzymes of the nucleotide excision repair pathway are suspected to be implicated in cancer. In this study bladder cancer which is viewed as a polygenic disease was investigated. The functional polymorphisms of four DNA repair genes, excision repair cross-complementing group 2 (ERCC2), Xeroderma Pigmentosum group C (XPC), and Xray repair cross-complementing groups 1 and 3 (XRCC1 and XRCC3) were analyzed. The studied population included 51 bladder cancer cases and 45 controls. The genotyping of six SNP (single nucleotide polymorphism) was carried out on these populations with the MGB (Minor Groove Binder) probe technique which uses allelic discrimination with the Taqman method. The Gln allele of the XPC 939 polymorphism was found to be associated with an increase in bladder cancer risk.
authors.affiliation: University Clermont 1, Clermont-Ferrand Cedex, France. Luc.FONTANA@u-clermont1.fr
authors.forename: Luc
authors.initials: L
authors.lastname: Fontana
authors.forename: Rémy
authors.initials: R
authors.lastname: Bosviel
authors.forename: Laetitia
authors.initials: L
authors.lastname: Delort
authors.forename: Laurent
authors.initials: L
authors.lastname: Guy
authors.forename: Nasséra
authors.initials: N
authors.lastname: Chalabi
authors.forename: Fabrice
authors.initials: F
authors.lastname: Kwiatkowski
authors.forename: Samir
authors.initials: S
authors.lastname: Satih
authors.forename: Nadège
authors.initials: N
authors.lastname: Rabiau
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Boiteux
authors.forename: Alain
authors.initials: A
authors.lastname: Chamoux
authors.forename: Yves-Jean
authors.initials: YJ
authors.lastname: Bignon
authors.forename: Dominique J
authors.initials: DJ
authors.lastname: Bernard-Gallon
mesh_terms: D016022:Case-Control Studies; D015331:Cohort Studies; D004260:DNA Repair / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005602:France; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012907:Smoking; D001749:Urinary Bladder Neoplasms / Q000235:genetics*; D000076105:X-ray Repair Cross Complementing Protein 1; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1; C110901:X-ray repair cross complementing protein 3; C000619371:XRCC1 protein, human; C086984:XPC protein, human; D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human