title: Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease.
abstract: Recent studies have demonstrated that cholesterol metabolism has an important role in Alzheimer's disease (AD) pathogenesis, suggesting that cholesterol-related genes may be significant genetic risk factors for AD. Based on the results of genome-wide screens, along with biological studies, we selected three genes as candidates for AD risk factors: ATP-binding cassette transporter A1 (ABCA1), cholesterol 25-hydroxylase (CH25H) and cholesterol 24-hydroxylase (CH24H). Case-control of North American Caucasians and AD families of Caribbean Hispanic origin were examined. Although excellent biological candidates, the case-control dataset did not support the hypothesis that these three genes were associated with susceptibility to AD. Similarly, no association was found in the Caribbean Hispanic families for CH25H. However, we did observe a possible interaction between ABCA1 and APOE in the Hispanics.
authors.affiliation: Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, 6 Queen's Park Crescent West, Toronto, Ont., Canada M5S 3H2.
authors.forename: Nobuto
authors.initials: N
authors.lastname: Shibata
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kawarai
authors.forename: Joseph H
authors.initials: JH
authors.lastname: Lee
authors.forename: Hye-Seung
authors.initials: HS
authors.lastname: Lee
authors.forename: Eri
authors.initials: E
authors.lastname: Shibata
authors.forename: Christine
authors.initials: C
authors.lastname: Sato
authors.forename: Yan
authors.initials: Y
authors.lastname: Liang
authors.forename: Rajan
authors.initials: R
authors.lastname: Duara
authors.forename: Richard P
authors.initials: RP
authors.lastname: Mayeux
authors.forename: Peter H
authors.initials: PH
authors.lastname: St George-Hyslop
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Rogaeva
mesh_terms: D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism*; D017691:Caribbean Region / Q000453:epidemiology; D002784:Cholesterol / Q000378:metabolism*; D000072556:Cholesterol 24-Hydroxylase; D005260:Female; D005431:Florida / Q000453:epidemiology; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006630:Hispanic or Latino / Q000706:statistics & numerical data; D006801:Humans; D008297:Male; D009864:Ontario / Q000453:epidemiology; D010641:Phenotype; D015995:Prevalence; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D013223:Statistics as Topic; D013250:Steroid Hydroxylases / Q000235:genetics*
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D002784:Cholesterol; D013250:Steroid Hydroxylases; D000072556:Cholesterol 24-Hydroxylase; C507384:cholesterol 25-hydroxylase