Table of Contents Author Guidelines Submit a Manuscript
Disease Markers
Volume 24 (2008), Issue 3, Pages 175-179

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

Renato Scacchi,1 Giuseppe Gambina,2 Elisabetta Broggio,2 Maria Ruggeri,3 and Rosa Maria Corbo1,4

1CNR Institute of Molecular Biology and Pathology, c/o Department of Genetics and Molecular Biology, University “La Sapienza”, Rome, Italy
2Alzheimer’s Disease and Other Dementias Center, Division of Neurology, Hospital of Verona, Verona, Italy
3Department of Clinical Pathology, S. Giovanni Hospital, Rome, Italy
4Department of Genetics and Molecular Biology, University "La Sapienza", Rome, Italy

Received 28 February 2008; Accepted 28 February 2008

Copyright © 2008 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.