Increased frequency of a new polymorphism in the cell division cycle 2 (cdc2) gene in patients with Alzheimer's disease and frontotemporal dementia

• Published in: Neuroscience letters Vol. 340; no. 1; pp. 69 - 73
• Main Authors: Johansson, A, Hampel, H, Faltraco, F, Buerger, K, Minthon, L, Bogdanovic, N, Sjögren, M, Zetterberg, H, Forsell, L, Lilius, L, Wahlund, L.O, Rymo, L, Prince, J.A, Blennow, K
• Format: Journal Article
• Language: English
• Published: Shannon Elsevier Ireland Ltd 03.04.2003; Elsevier
• Subjects: 80 and over; Aged; Aged, 80 and over; Alzheimer Disease; Alzheimer Disease - genetics; Alzheimer's disease; Apolipoprotein E; Apolipoproteins E; Apolipoproteins E - genetics; Biological and medical sciences; Cdc2; CDC2 Protein Kinase; CDC2 Protein Kinase - genetics; Cell Division; Cell Division - genetics; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Dementia; Dementia - genetics; Female; Frontotemporal dementia; Gene Frequency; Gene Frequency - genetics; Genetic; Genetic Predisposition to Disease; Genetic Predisposition to Disease - genetics; genetics; Humans; Male; Medical sciences; Medicin och hälsovetenskap; Middle Aged; Neurology; Neurosciences; Neurovetenskaper; Polymorphism; Polymorphism, Genetic - genetics; Senile plaques; Senile plaques; Frontotemporal dementia; Apolipoprotein E; Alzheimer's disease; Cdc2; Human; Nervous system diseases; Senile plate; Alzheimer disease; Cerebral disorder; Central nervous system disease; Degenerative disease; Polymorphism
• ISSN: 0304-3940; 1872-7972
• DOI: 10.1016/S0304-3940(03)00051-X

Recent studies show linkage between Alzheimer's disease (AD) and two loci on chromosome 10. The cell division cycle 2 (cdc2) gene is located close to one of the chromosome 10 markers, and is a candidate gene for AD since it is involved in the pathogenesis of AD. We sequenced coding exons and flanking intronic sequences and the promoter region on the cdc2 gene and found three new single nucleotide polymorphisms (SNPs). We analyzed 272 Caucasian AD cases, 160 controls and 70 cases with frontotemporal dementia (FTD) for these SNPs. Homozygosity for one of the SNPs (Ex6+7I/D) was more frequent in both AD and FTD cases than in controls. In the combined tauopathy (AD and FTD) group the odds ratio (OR) was 1.77 (95% CI 1.19–2.63) for the Ex6+7II genotype. Our findings suggest that the Ex6+7I allele is associated with tauopathies, both AD and FTD.