title: Methylenetetrahydrofolate reductase and angiotensin converting enzyme gene polymorphisms in two genetically and diagnostically distinct cohort of Alzheimer patients.
abstract: The role of methylenetetrahydrofolate reductase (MTHFR) and angiotensin converting enzyme (ACE) gene polymorphisms as risk factors for the occurrence of Alzheimer's disease (AD) is still controversial. In this study, we investigated the common MTHFR C677-->T and ACE insertion/deletion (I/D) gene polymorphisms as risk factors for AD in two genetically and diagnostically distinct cohort of Alzheimer's patients. We analyzed a neuropathologically confirmed American cohort of 124 AD patients and 97 elderly controls, and a clinically diagnosed Italian cohort of 126 probable AD cases, 106 elderly controls, and a community-based sample of 1232 subjects aged under 65 years. No difference was found in polymorphism distribution between cases and controls in both study cohorts. We also tested a possible association between the polymorphisms investigated. No interaction was found between the MTHFR and ACE alleles. Moreover, no association was found for the ACE and MTHFR polymorphisms with age at onset, disease duration and MMSE score at observation. Thus, in our study, MTHFR C677-->T and ACE I/D polymorphisms do not appear to confer an added risk for AD.
authors.affiliation: Laboratory of Molecular Pathology and Gene Therapy, IRCCS H Casa Sollievo della Sofferenza, Opera di Padre Pio da Pietrelcina, San Giovanni Rotondo (FG), Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Seripa
authors.forename: Gloria Dal
authors.initials: GD
authors.lastname: Forno
authors.forename: Maria G
authors.initials: MG
authors.lastname: Matera
authors.forename: Carolina
authors.initials: C
authors.lastname: Gravina
authors.forename: Maurizio
authors.initials: M
authors.lastname: Margaglione
authors.forename: Mark T
authors.initials: MT
authors.lastname: Palermo
authors.forename: David R
authors.initials: DR
authors.lastname: Wekstein
authors.forename: Piero
authors.initials: P
authors.lastname: Antuono
authors.forename: Daron G
authors.initials: DG
authors.lastname: Davis
authors.forename: Antonio
authors.initials: A
authors.lastname: Daniele
authors.forename: Carlo
authors.initials: C
authors.lastname: Masullo
authors.forename: Alessandra
authors.initials: A
authors.lastname: Bizzarro
authors.forename: Massimo
authors.initials: M
authors.lastname: Gennarelli
authors.forename: Vito M
authors.initials: VM
authors.lastname: Fazio
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000375:Aging / Q000235:genetics; D000544:Alzheimer Disease / Q000145:classification / Q000175:diagnosis / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D015331:Cohort Studies; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011110:Polymorphism, Genetic; D012016:Reference Values; D012307:Risk Factors; D014481:United States / Q000453:epidemiology; D044465:White People / Q000235:genetics
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2); D007703:Peptidyl-Dipeptidase A