The -22c/t polymorphism in presenilin 1 gene is not connected with late-onset and early-onset familial Alzheimer's disease in Poland

• Published in: JOURNAL OF NEURAL TRANSMISSION Vol. 112; no. 6; pp. 839 - 845
• Main Authors: Zekanowski, C, Religa, D, Safranow, K, Maruszak, A, Dziedziejko, V, Styczyńska, M, Gacia, M, Golan, M, Pepłońska, B, Chlubek, D, Kuźnicki, J, Barcikowska, M
• Format: Journal Article
• Language: English
• Published: Austria Springer Nature B.V 01-06-2005
• Subjects: Age of Onset; Aged; Alzheimer Disease - genetics; Chromatography, High Pressure Liquid; Female; Genetic Predisposition to Disease; Humans; Male; Medicin och hälsovetenskap; Membrane Proteins - genetics; Middle Aged; Poland - epidemiology; Polymorphism, Genetic; Polymorphism, Single-Stranded Conformational; Presenilin-1; Promoter Regions, Genetic; Poland
• ISSN: 0300-9564; 1435-1463
• DOI: 10.1007/s00702-004-0218-8

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.