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
Affiliations: CNR Institute of Molecular Biology and Pathology, c/o
Department of Genetics and Molecular Biology, University "La Sapienza", Rome,
Italy | Alzheimer's Disease and Other Dementias Center,
Division of Neurology, Hospital of Verona, Verona, Italy | Department of Clinical Pathology, S. Giovanni
Hospital, Rome, Italy | Department of Genetics and Molecular Biology,
University "La Sapienza", Rome, Italy
Note: [] Corresponding author: Dr. Renato Scacchi, CNR Institute of
Molecular Biology and Pathology, c/o Department of Genetics and Molecular
Biology, University "La Sapienza", P.le Aldo Moro 5, 00185, Rome, Italy.
Tel.: +39 6 49912825; Fax: +39 6 4456866; E-mail: Renato.Scacchi@uniroma1.it
Abstract: The human endothelin-converting enzyme (ECE) is involved in
β-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.
Keywords: Alzheimer's disease, apolipoprotein E, APOE, coronary artery disease, DNA polymorphisms, endothelin-converting enzyme, ECE-1
