title: Colorectal cancer susceptibility: apparent gender-related modulation by ABCB1 gene polymorphisms.
abstract: BACKGROUND
  The ATP-binding cassette transporter B1 (ABCB1) gene codes for a membrane efflux pump localized in epithelial cells. Together with other Permeability-glycoproteins in the small and large intestine, its product represents a barrier against xenobiotics, bacterial toxins, drugs and other substances introduced with diet, including carcinogens. The aim of this investigation was to verify the possible contribution of ABCB1 single nucleotide polymorphisms (SNPs) to the genetic risk of colorectal cancer (CRC).
  
  
  RESULTS
  DNA obtained from the peripheral blood of 98 CRC patients and 100 healthy controls was genotyped for the three selected SNPs: 1236C > T (rs1128503), 2677G > T/A (rs2032582), and 3435C > T (rs1045642). Molecular data were analyzed to asses allele and haplotype association with CRC. No evidence of an association between ABCB1 alleles and CRC occurrence as a whole was found. However, ABCB1 showed either association with carcinoma of the sigmoid colon, and appeared able to influence the sex ratio among CRC patients. These two effects seemed to act independently based on multivariate analysis. We showed that ABCB1 polymorphisms were able to influence CRC susceptibility related to tumor localization and patient gender.
  
  
  CONCLUSIONS
  We suggest that sensitivity to undetermined risk factors could depend on the genetic background of ABCB1 locus, with a mechanism that also depends on patient gender.
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Via Belmeloro, 8-40126, Bologna, Italy. marcella.martinelli@unibo.it.|Centre of Molecular Genetics, "CARISBO Foundation", University of Bologna, Bologna, Italy. marcella.martinelli@unibo.it.
authors.forename: Marcella
authors.initials: M
authors.lastname: Martinelli
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Via Belmeloro, 8-40126, Bologna, Italy. luca.scapoli2@unibo.it.|Centre of Molecular Genetics, "CARISBO Foundation", University of Bologna, Bologna, Italy. luca.scapoli2@unibo.it.
authors.forename: Luca
authors.initials: L
authors.lastname: Scapoli
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Via Belmeloro, 8-40126, Bologna, Italy. francesca.cura3@unibo.it.|Centre of Molecular Genetics, "CARISBO Foundation", University of Bologna, Bologna, Italy. francesca.cura3@unibo.it.
authors.forename: Francesca
authors.initials: F
authors.lastname: Cura
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Via Belmeloro, 8-40126, Bologna, Italy. mariateresa.rodia2@unibo.it.|Centre of Molecular Genetics, "CARISBO Foundation", University of Bologna, Bologna, Italy. mariateresa.rodia2@unibo.it.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Rodia
authors.affiliation: Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy. g.ugolini@unibo.it.
authors.forename: Giampaolo
authors.initials: G
authors.lastname: Ugolini
authors.affiliation: Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy. isacco.montroni2@unibo.it.
authors.forename: Isacco
authors.initials: I
authors.lastname: Montroni
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Via Belmeloro, 8-40126, Bologna, Italy. rossella.solmi@unibo.it.|Centre of Molecular Genetics, "CARISBO Foundation", University of Bologna, Bologna, Italy. rossella.solmi@unibo.it.
authors.forename: Rossella
authors.initials: R
authors.lastname: Solmi
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000235:genetics / Q000378:metabolism; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B