The -22c/t polymorphism in presenilin 1 gene is not connected with late-onset and early-onset familial Alzheimer's disease in Poland.
The -22c/t polymorphism in the promoter of the presenilin 1 gene is associated with increased risk for Alzheimer's disease (AD) in some populations. It was shown that -22c allele is connected with two-fold decrease in promoter activity. We studied the impact of the polymorphism in groups of Polish late-onset and early-onset AD patients. Our results suggest that -22c/t polymorphism is not connected with AD in Polish population. The -22t allele showed a high degree of linkage disequilibrium with -2797 insertion of 13 bp. An additional -2923g/t polymorphism is also not connected with -22c/t and is not a risk factor for AD.
Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland. czarekz@cmdik.pan.pl
C
C
Zekanowski
D
D
Religa
K
K
Safranow
A
A
Maruszak
V
V
Dziedziejko
M
M
Styczyńska
M
M
Gacia
M
M
Golan
B
B
Pepłońska
D
D
Chlubek
J
J
Kuźnicki
M
M
Barcikowska
D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D011044:Poland / Q000453:epidemiology; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D053764:Presenilin-1; D011401:Promoter Regions, Genetic
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1