Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease.
A recent study has shown that a genetic variation in the Cathepsin D (catD) gene is a major risk factor for the development of Alzheimer's disease (AD). CatD is an intracellular aspartyl protease involved in neurodegeneration. A C-->T (Ala-->Val) transition at position 224 has been associated with altered intracellular maturation. Recently, a significant overrepresentation of the T allele of the catD gene in AD patients compared with controls was reported. However, this finding has not yet been confirmed. We analyzed the distribution of catD and apolipoprotein E polymorphisms in Italian patients with sporadic and familial AD (FAD). Our studies revealed that the distribution of catD polymorphism did not differ in AD and FAD patients and controls. Thus, our data do not support a role for the catD gene as a genetic risk factor in the development of AD.
Bagnoli
Silvia
S
Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni 85, 50134, Florence, Italy.
Nacmias
Benedetta
B
Tedde
Andrea
A
Guarnieri
Bianca Maria
BM
Cellini
Elena
E
Ciantelli
Monica
M
Petruzzi
Concetta
C
Bartoli
Antonella
A
Ortenzi
Luigi
L
Serio
Antonio
A
Sorbi
Sandro
S
D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D016022:Case-Control Studies; D002402:Cathepsin D / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic
D001057:Apolipoproteins E; D002402:Cathepsin D