P21 Gene Variation and Late-Onset Alzheimer’s Disease in the Italian Population

Background: Variation at the cyclin-dependent kinase inhibitor gene P21 in a patient sample of the Italian population was investigated in search of genetic factors potentially involved in sporadic late-onset Alzheimer’s disease (AD). Methods: Two single nucleotide polymorphisms (SNPs) were studied i...

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Bibliographic Details
Published in:Dementia and geriatric cognitive disorders 2013-01, Vol.35 (1-2), p.51-57
Main Authors: Scacchi, R., Gambina, G., Moretto, G., Corbo, R.M.
Format: Article
Language:English
Subjects:
Age of Onset
Aged
Aged, 80 and over
Alleles
Alzheimer Disease - epidemiology
Alzheimer Disease - genetics
Alzheimer Disease - physiopathology
Analysis of Variance
Biological and medical sciences
Cardiology. Vascular system
Codon
Cyclin-Dependent Kinase Inhibitor p21 - genetics
Cyclin-Dependent Kinase Inhibitor p21 - physiology
Data Interpretation, Statistical
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA - genetics
Endocardial and cardiac valvular diseases
Exons - genetics
Female
Gene Frequency
Genotype
Heart
Humans
Italy - epidemiology
Male
Medical sciences
Middle Aged
Neurology
Neuropsychological Tests
Original Research Article
Polymorphism, Single Nucleotide - genetics
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Summary:Background: Variation at the cyclin-dependent kinase inhibitor gene P21 in a patient sample of the Italian population was investigated in search of genetic factors potentially involved in sporadic late-onset Alzheimer’s disease (AD). Methods: Two single nucleotide polymorphisms (SNPs) were studied in this gene: a C>A transversion at codon 31 (ser>arg) in exon 2 (RS1801270) and a C>T transition occurring 20 bp downstream from the stop codon of exon 3 (RS1059234). Results: The odd ratios were: RS1801270 A allele = 0.62 (95% CI = 0.33–1.18; p = 0.14); RS1059234 T allele = 0.57 (95% CI = 0.33–0.98; p = 0.04). In addition, a longer duration of disease was found with genotypes carrying the RS1059234 T allele (4.3 ± 2.5 years) than with those not carrying it (3.3 ± 2.1 years) (p = 0.001). Conclusion: In the present sample, one of the two SNPs seems in some way related to AD, since carriers of one allele were slightly protected against AD onset.
ISSN:1420-8008
1421-9824
DOI:10.1159/000345788