title: C-338A polymorphism of the endothelin-converting enzyme (ECE-1) gene and the susceptibility to sporadic late-onset Alzheimer's disease and coronary artery disease.
abstract: The human endothelin-converting enzyme (ECE) is involved in beta-amyloid synthesis and regulation of the endothelin-1 (ET-1) vasoconstricting peptide. We investigated the distribution of the C-338A polymorphism of the ECE-1b gene in sporadic late-onset Alzheimer's disease (LOAD) and in coronary artery disease (CAD) to verify its role in the onset of these two complex diseases. Two cohorts of 458 Italian Caucasian LOAD patients and 165 CAD patients were examined for the C-338A polymorphism and compared with respective control samples (260 and 106 subjects, respectively) . The A allele was less present in LOAD patients than in controls, but an at limits statistically significant difference was achieved only in subjects aged less than 80 years, where only the AA genotypes appeared to have a protective role against the onset of the sporadic LOAD. For the overall CAD sample the pattern was similar and significant differences were observed only in subjects non carrying the apolipoprotein E (APOE) e*4 allele, where the A allele carrying genotypes had a protective role against the onset of the disease.
authors.affiliation: CNR Institute of Molecular Biology and Pathology, c/o Department of Genetics and Molecular Biology, University La Sapienza, Rome, Italy. Renato.Scacchi@uniroma1.it
authors.forename: Renato
authors.initials: R
authors.lastname: Scacchi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Gambina
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Broggio
authors.forename: Maria
authors.initials: M
authors.lastname: Ruggeri
authors.forename: Rosa Maria
authors.initials: RM
authors.lastname: Corbo
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000201:enzymology / Q000235:genetics*; D016282:Aspartic Acid Endopeptidases / Q000235:genetics*; D015331:Cohort Studies; D003324:Coronary Artery Disease / Q000201:enzymology / Q000235:genetics*; D000072396:Endothelin-Converting Enzymes; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008666:Metalloendopeptidases / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic
chemical_list: D016282:Aspartic Acid Endopeptidases; D008666:Metalloendopeptidases; C000606923:ECE1 protein, human; D000072396:Endothelin-Converting Enzymes