title: Arylamine N-acetyltransferase type 2 and glutathione S-transferases M1 and T1 polymorphisms in familial adenomatous polyposis.
abstract: Familial adenomatous polyposis (FAP) exhibits a variable phenotype even in carriers of the same adenomatous polyposis coli germline mutation. Xenobiotic-metabolizing enzymes such as N-acetyltransferases (NATs) and glutathione S-transferases (GSTs) were reported to modify the individual risk for colorectal cancer. We examined whether the polymorphisms of the NAT2, GSTM1, and GSTT1 enzymes affect age at diagnosis of first colorectal adenomas or extracolonic manifestations in 411 FAP patients. Neither age at diagnosis of colorectal adenomas nor occurrence of extra-intestinal tumors differed significantly between genotypes at the NAT2 and GSTM1 loci, whereas GSTT1 polymorphism showed an uncertain association with extra-intestinal manifestations. Combinations of supposed at risk genotypes of the three enzymes showed no significant differences either. Thus, NAT2, GSTM1, or GSTT1 are unlikely to modify the disease phenotype in FAP patients.
authors.affiliation: Institute of Human Genetics, University of Bonn, Bonn, Germany. c.lamberti@uni-bonn.de
authors.forename: Christof
authors.initials: C
authors.lastname: Lamberti
authors.forename: Matthias
authors.initials: M
authors.lastname: Jungck
authors.forename: Michael
authors.initials: M
authors.lastname: Laarmann
authors.forename: Michael
authors.initials: M
authors.lastname: Knapp
authors.forename: Reiner
authors.initials: R
authors.lastname: Caspari
authors.forename: Waltraut
authors.initials: W
authors.lastname: Friedl
authors.forename: Tilman
authors.initials: T
authors.lastname: Sauerbruch
authors.forename: Peter
authors.initials: P
authors.lastname: Propping
authors.forename: Roland
authors.initials: R
authors.lastname: Kruse
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000201:enzymology / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics; D000328:Adult; D001191:Arylamine N-Acetyltransferase / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000235:genetics / Q000401:mortality; D005838:Genotype; D018095:Germ-Line Mutation; D005982:Glutathione Transferase / Q000235:genetics*; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D025601:Adenomatous Polyposis Coli Protein; D001191:Arylamine N-Acetyltransferase; D005982:Glutathione Transferase; C478900:NAT2 protein, human; C413545:glutathione S-transferase T1