Genetic association between Notch4 polymorphisms and Alzheimer's disease in the Japanese population.
It is shown that Notch 4 plays important roles in the pathogenesis of Alzheimer's disease (AD). To investigate whether three single nucleotide polymorphisms (SNPs) of the Notch4 gene are associated with AD, the three SNPs were genotyped by a polymerase chain reaction-restriction fragment length polymorphism method for 243 AD patients and 130 age-matched controls. We also confirmed the linkage disequilibrium among these three SNPs of the gene using the EH program. The three SNPs did not seem to alter risk for AD. Our study suggests that SNPs studied are not associated with AD. The linkage disequilibrium of this locus indicates that there is genetic heterogeneity in the Notch4 gene. We could not confirm the previous synergetic associations of the 5' untranslated region (rs367398) C/C genotype in apolipoprotein E epsilon4 bearers in AD patients. Potential markers nearby the 5' untranslated region polymorphism might affect risk for AD.
Shibata
Nobuto
N
Department of Psychiatry, Juntendo University School of Medicine. Hongo, Bunkyo-ku, Tokyo, Japan. nobuto.shibata@nifty.ne.jp
Ohnuma
Tohru
T
Higashi
Shinji
S
Higashi
Maiko
M
Usui
Chie
C
Ohkubo
Taku
T
Watanabe
Tomoko
T
Kawashima
Ritsuko
R
Kitajima
Akiyoshi
A
Ueki
Akira
A
Nagao
Masatsugu
M
Arai
Heii
H
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D005260:Female; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D000074562:Receptor, Notch4; D051880:Receptors, Notch / Q000235:genetics*
C106075:NOTCH4 protein, human; D011518:Proto-Oncogene Proteins; D000074562:Receptor, Notch4; D051880:Receptors, Notch