title: Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine levels in AD patients.
abstract: The distribution of the Glu298Asp polymorphism in NOS3 gene was determined in 405 Italian patients with "probable" Alzheimer's disease (AD) compared with 253 age-matched controls. Total plasma homocysteine (tHcy) levels were evaluated in 97 patients and 23 controls, and were correlated with the Glu298Asp genotype. A significantly increased frequency of the Glu/Glu genotype in late onset AD (LOAD) patients was found. tHcy levels were significantly increased in patients compared with controls and, notably, higher in LOAD than in early onset AD (EOAD). Stratifying by the Glu298Asp genotype, a trend toward an increase of tHcy was present in Glu/Glu homozygous. This wild type genotype seems to be associated with LOAD. tHcy levels are significantly increased in AD compared with controls and, moreover, higher in LOAD than in EOAD, possibly in correlation with the microvascular disease occurring with aging. Besides, a contribution of the Glu/Glu genotype in increasing tHcy levels has been observed.
authors.affiliation: Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Guidi
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
authors.forename: Eliana
authors.initials: E
authors.lastname: Venturelli
authors.forename: Carlo
authors.initials: C
authors.lastname: Lovati
authors.forename: Roberto
authors.initials: R
authors.lastname: Del Bo
authors.forename: Chiara
authors.initials: C
authors.lastname: Fenoglio
authors.forename: Alberto
authors.initials: A
authors.lastname: Gatti
authors.forename: Roberto
authors.initials: R
authors.lastname: Dominici
authors.forename: Sara
authors.initials: S
authors.lastname: Galbiati
authors.forename: Roberta
authors.initials: R
authors.lastname: Virgilio
authors.forename: Simone
authors.initials: S
authors.lastname: Pomati
authors.forename: Giacomo P
authors.initials: GP
authors.lastname: Comi
authors.forename: Claudio
authors.initials: C
authors.lastname: Mariani
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Forloni
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
mesh_terms: D017677:Age Distribution; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000453:epidemiology* / Q000235:genetics / Q000378:metabolism*; D019943:Amino Acid Substitution; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D005973:Glutamine / Q000235:genetics; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D019001:Nitric Oxide Synthase / Q000235:genetics*; D052250:Nitric Oxide Synthase Type III; D011110:Polymorphism, Genetic / Q000235:genetics; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D013223:Statistics as Topic
chemical_list: D006710:Homocysteine; D005973:Glutamine; C496314:NOS3 protein, human; D019001:Nitric Oxide Synthase; D052250:Nitric Oxide Synthase Type III