title: Lack of association between the CYP46 gene polymorphism and Italian late-onset sporadic Alzheimer's disease.
abstract: Recent studies have provided evidence toward the possible involvement of brain cholesterol homeostasis in late-onset Alzheimer's disease (LOAD). We analyzed an intronic T-->C substitution (rs 754203) of the cholesterol 24S-hydroxylase (CYP46) gene, encoding an enzyme acting on brain cholesterol turnover, which has been recently associated with an increased risk of AD, dependent or not on Apolipoprotein E (ApoE) genotype. No significant association was found for the CYP46 polymorphism in LOAD compared to the controls, even after stratification for the presence/absence of the ApoE*4 allele. Our data do not support a role of the CYP46 polymorphism as a possible susceptibility factor for developing AD.
authors.affiliation: Department of Neurological and Psychiatric Sciences, University of Florence, Viale Pieraccini, 6 50139 Florence, Italy. tedde1967@libero.it
authors.forename: Andrea
authors.initials: A
authors.lastname: Tedde
authors.forename: Mario
authors.initials: M
authors.lastname: Rotondi
authors.forename: Elena
authors.initials: E
authors.lastname: Cellini
authors.forename: Silvia
authors.initials: S
authors.lastname: Bagnoli
authors.forename: Laura
authors.initials: L
authors.lastname: Muratore
authors.forename: Benedetta
authors.initials: B
authors.lastname: Nacmias
authors.forename: Sandro
authors.initials: S
authors.lastname: Sorbi
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000453:epidemiology* / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D000072556:Cholesterol 24-Hydroxylase; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013250:Steroid Hydroxylases / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E; D013250:Steroid Hydroxylases; D000072556:Cholesterol 24-Hydroxylase