title: No association between CYP2D6 polymorphism and Alzheimer's disease in an Italian population.
abstract: Allelic variation at the CYP2D6 gene has been suggested to be associated with CNS disorders, including Parkinson's disease and Lewy body dementia. In order to elucidate whether a relationship exists between CYP2D6 polymorphism and the risk of developing Alzheimer's disease (AD), CYP2D6 allele and genotype frequencies have been evaluated in 94 patients from Southern Italy (29 men and 65 women, aged 74+/-8 years) with AD, and in 350 healthy controls (204 men, 146 women, aged 33+/-9 years) from the same geographical region. Allele frequencies among AD patients were not significantly different from those in healthy controls. Subjects could be divided in four CYP2D6 genotype groups: 52 (56%) patients and 205 (59%) controls carried no mutated alleles (homozygous extensive metabolizers (EM)), 33 (35%) patients and 109 (31%) controls carried one mutated allele (heterozygous EM), while 4 (4%) patients and 11 (3%) controls were found to have two mutated alleles (poor metabolizers (PM)). Five (5%) patients and 25 (7%) controls carried extra copies of a functional gene (ultrarapid metabolizers (UM)). Our results indicate that CYP2D6 polymorphism is unlikely to represent a major risk factor in susceptibility to Alzheimer's disease.
authors.affiliation: Department of Medical Sciences, Clinical Pharmacology, University of Uppsala, Akademiska sjukhuset, Ing. 61, 75185 Uppsala, Sweden. gabriella.scordo@medsci.uu.se
authors.forename: Maria Gabriella
authors.initials: MG
authors.lastname: Scordo
authors.forename: Marja-Liisa
authors.initials: ML
authors.lastname: Dahl
authors.forename: Edoardo
authors.initials: E
authors.lastname: Spina
authors.forename: Francesco
authors.initials: F
authors.lastname: Cordici
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Arena
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics*; D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics* / Q000378:metabolism*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D010597:Pharmacogenetics; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D019389:Cytochrome P-450 CYP2D6