Association between a PS-1 intronic polymorphism and late onset Alzheimer's disease.
Previous work suggests an association between allele 1 and the 1-1 genotype of an intronic polymorphism in the presenilin-1 (PS-1) gene and late onset Alzheimer's disease. We found an excess of the 1-1 genotype in our late onset clinical sample (p = 0.006, one-tailed) but not in our postmortem confirmed sample, which instead exhibited an excess of allele 1 (p = 0.02, one-tailed). No interaction between PS-1 and ApoE genotype was detected and the findings remained significant when the effects of ApoE were taken into account (p = 0.03, one-tailed). These results suggest that the PS-1 polymorphism, or a locus in linkage disequilibrium with it, acts as a risk factor for late onset AD.
Kehoe
P
P
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.
Williams
J
J
Holmans
P
P
Liddell
M
M
Lovestone
S
S
Holmes
C
C
Powell
J
J
Neal
J
J
Wilcock
G
G
Owen
M J
MJ
D017668:Age of Onset; D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D001057:Apolipoproteins E / Q000235:genetics; D005190:Family; D005260:Female; D005838:Genotype; D006801:Humans; D007438:Introns; D015810:Linkage Disequilibrium; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D053764:Presenilin-1; D012044:Regression Analysis; D012307:Risk Factors
D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1