Transferrin C2 variant does confer a risk for Alzheimer's disease in caucasians

Article type: Research Article

Authors: Zambenedetti, Pamela^a | De Bellis, GianLuca^b | Biunno, Ida^b | Musicco, Massimo^b | Zatta, Paolo^{c; *}

Affiliations: [a] Pathology Division and Brain Bank, General Hospital, Dolo-Venice, Italy | [b] CNR Institute for Biomedical Technologies, Milan, Italy | [c] CNR-Institute for Biomedical Technologies, Padova Unit “Metalloproteins” Padova, Italy

Correspondence: [*] Corresponding author: Paolo Zatta, CNR-Institute for Biomedical Technologies, “Metalloproteins” Unit, Department of Biology, University of Padova, Viale G. Colombo 3, 35121 Padova, Italy. Tel.: +39 049 827 6331; Fax: +39 049 827 6330; E-mail: [email protected].

Abstract: Several gene mutations are associated with an increased risk of Alzheimer's disease. Previous studies reported higher transferrin C2 allele frequencies in Alzheimer's disease compared with normal controls. However, potential interactions between transferrin C2 and APOE (ε4), have not been extensively investigated and have been the subject of controversial reports from several laboratories. We have carried out a case-control study on the association between Alzheimer's disease and transferrin C2 and APOE ε4 alleles. ε4 allele was associated with a four fold increase in the risk of disease, and transferrin C2 allele was significantly associated with Alzheimer's disease only in ε4 negative subjects. These results suggest that apoE and transferrin may be part of a complex mechanism in the pathogenesis of Alzheimer's disease.

Keywords: Alzheimer's disease, transferrin, apoE, iron

DOI: 10.3233/JAD-2003-5601

Journal: Journal of Alzheimer's Disease, vol. 5, no. 6, pp. 423-427, 2003