title: P21 gene variation and late-onset Alzheimer's disease in the Italian population.
abstract: 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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: CNR Institute of Molecular Biology and Pathology, Department of Biology and Biotechnology, Sapienza University, Rome, Italy. Renato.Scacchi@uniroma1.it
authors.forename: R
authors.initials: R
authors.lastname: Scacchi
authors.forename: G
authors.initials: G
authors.lastname: Gambina
authors.forename: G
authors.initials: G
authors.lastname: Moretto
authors.forename: R M
authors.initials: RM
authors.lastname: Corbo
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology*; D000704:Analysis of Variance; D003062:Codon; D050759:Cyclin-Dependent Kinase Inhibitor p21 / Q000235:genetics* / Q000502:physiology*; D004247:DNA / Q000235:genetics; D003627:Data Interpretation, Statistical; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D003062:Codon; D050759:Cyclin-Dependent Kinase Inhibitor p21; D004247:DNA