Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms.
The biological study of the Nicastrin protein shows its crucial role in the pathogenesis of Alzheimer's disease (AD). We tested the hypothesis that the Nicastrin (NCSTN) gene might be genetically associated with AD. The association analysis of two single nucleotide polymorphisms (SNPs) in the coding region (cSNPs) of NCSTN were performed in an Italian population. No evidence of association was obtained between the two SNPs investigated in sporadic and familial AD cases under the stratification of currently known genetic risk factors including the apolipoprotein E (APOE), the presenilins and the beta-amyloid precursor protein. The result suggests no apparent synergic interaction between the NCSTN and APOE epsilon 4 in the risk to develop the late onset sporadic form of AD. But considering its biological effects, the result can not exclude the NCSTN as candidate for genetic factor in AD. Further genetic study of the NCSTN would be necessary to evaluate the potential genetic involvement in AD.
Orlacchio
Antonio
A
Laboratorio di Neurogenetica, IRCCS Santa Lucia, Via Ardeatina 354, 00179, Rome, Italy. a.orlacchio@hsantalucia.it
Kawarai
Toshitaka
T
Polidoro
Mario
M
Stefani
Alessandro
A
Orlacchio
Aldo
A
St George-Hyslop
Peter H
PH
Bernardi
Giorgio
G
D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D053829:Amyloid Precursor Protein Secretases; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D008562:Membrane Glycoproteins; C413604:nicastrin protein; D053829:Amyloid Precursor Protein Secretases