title: The APOE gene locus in frontotemporal dementia and primary progressive aphasia.
abstract: OBJECTIVE
  To investigate the role of the apolipoprotein E (APOE) locus in frontotemporal dementia (FTD) and primary progressive aphasia (PPA).
  
  
  METHODS
  Case-control study.
  
  
  METHODS
  Neurology clinic, Rome, Italy.
  
  
  METHODS
  Eighty-six patients with a clinical diagnosis of sporadic FTD, including 32 patients with a clinical diagnosis of PPA, and 99 nondemented cognitively intact control subjects.
  
  
  METHODS
  Genotype analysis of the 3 single-nucleotide polymorphisms rs449647, rs769446, and rs405509 in the promoter region of the APOE gene and of the 2 single-nucleotide polymorphisms rs429358 and rs7412 forming the common apoE polymorphism.
  
  
  RESULTS
  Significant associations with FTD were observed for genotypes rs449647 A/T (odds ratio [OR], 2.1; 95% confidence interval [CI], 1.0-4.5), rs769446 T/C (OR, 4.4; 95% CI, 1.9-10.2), and APOE ε3/ε4 (OR, 4.1; 95% CI, 1.6-10.9). Significant associations with PPA were also observed for genotypes APOE ε3/ε4 (OR, 22.5; 95% CI, 1.2-229.4) and ε4/ε4 (OR, 7.5; 95% CI, 2.6-21.6). Significant associations with FTD were observed for haplotypes A-C-G-C-C (OR, 5.6; 95% CI, 1.4-21.5) and T-T-T-C-C (OR, 5.2; 95% CI, 1.1-24.0). Significant associations with PPA were also observed for haplotypes A-T-T-T-C (OR, 0.4; 95% CI, 0.2-0.9) and A-T-T-C-C (OR, 5.2; 95% CI, 1.4-19.3).
  
  
  CONCLUSIONS
  Although the physiological role of apoE in FTD and PPA needs further investigations, our results suggest an involvement of the APOE gene locus in the genetics of FTD and PPA.
authors.affiliation: BiolD, Geriatric Unit and Gerontology-Geriatrics Research Laboratory, Department of Medical Sciences, I.R.C.C.S. Casa Sollievo della Sofferenza, Viale Cappuccini 1, San Giovanni Rotondo. dseripa@operapadrepio.it
authors.forename: Davide
authors.initials: D
authors.lastname: Seripa
authors.forename: Alessandra
authors.initials: A
authors.lastname: Bizzarro
authors.forename: Francesco
authors.initials: F
authors.lastname: Panza
authors.forename: Adele
authors.initials: A
authors.lastname: Acciarri
authors.forename: Fabio
authors.initials: F
authors.lastname: Pellegrini
authors.forename: Alberto
authors.initials: A
authors.lastname: Pilotto
authors.forename: Carlo
authors.initials: C
authors.lastname: Masullo
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D018888:Aphasia, Primary Progressive / Q000175:diagnosis / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D016022:Case-Control Studies; D016001:Confidence Intervals; D005260:Female; D057180:Frontotemporal Dementia / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007558:Italy; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics
chemical_list: D001057:Apolipoproteins E