Polymorphism of the regulatory region of the presenilin-2 gene in sporadic Alzheimer's disease: a case-control study.
OBJECTIVE
presenilin-2 is one of the causative genes for familial Alzheimer's disease, and the apolipoprotein E epsilon4 allele is a major genetic risk factor for late-onset and sporadic early-onset Alzheimer's disease. Polymorphism of the regulatory region of presenilin-2 has recently been reported to be associated with sporadic Alzheimer's disease in a Russian population. The purpose of this study was to determine whether Alzheimer's disease is associated with the presenilin-2 gene polymorphism and the apolipoprotein E genotype in an extended case-control study.


METHODS
We examined 230 patients with Alzheimer's disease, along with an equal number of age- and sex-matched controls from the same community, in a Japanese population by using a Chi-square test for homogeneity and a logistic regression analysis.


RESULTS
The presenilin-2 polymorphism frequencies were similar in early-onset Alzheimer's disease patients (0.17) and younger controls (0.15), and in late-onset Alzheimer's disease (0.20) and elderly controls (0.20). We found no evidence for an association between the presenilin-2 polymorphism and the apolipoprotein E epsilon4 allele.


CONCLUSIONS
Our results fail to support an association of presenilin-2 gene polymorphism with Alzheimer's disease. The discrepancy between our results and the results of the Russian study appear to be due to racial differences.
Quan
Wenxiang
W
Department of Psychiatry and Neurology, Kobe Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, and Hyogo Institute of Aging Brain and Cognitive Disorders, Himeji Brain and Heart Center, Japan.
Yasuda
Minoru
M
Hashimoto
Mamoru
M
Yamamoto
Yasuji
Y
Ishii
Kazunari
K
Kazui
Hiroaki
H
Mori
Etsuro
E
Kakigi
Tatsuya
T
Maeda
Kiyoshi
K
D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D016001:Confidence Intervals; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D053766:Presenilin-2; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics; D012189:Retrospective Studies
D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D008565:Membrane Proteins; C508861:PSEN2 protein, human; D053766:Presenilin-2