Abstract | OBJECTIVE: DESIGN: Case-control study. SETTING: Neurology clinic, Rome, Italy. PATIENTS: 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. MAIN OUTCOME MEASURES: 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). CONCLUSION: 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.
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Authors | Davide Seripa, Alessandra Bizzarro, Francesco Panza, Adele Acciarri, Fabio Pellegrini, Alberto Pilotto, Carlo Masullo |
Journal | Archives of neurology
(Arch Neurol)
Vol. 68
Issue 5
Pg. 622-8
(May 2011)
ISSN: 1538-3687 [Electronic] United States |
PMID | 21555637
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Aged
- Aged, 80 and over
- Aphasia, Primary Progressive
(diagnosis, genetics)
- Apolipoproteins E
(genetics)
- Case-Control Studies
- Confidence Intervals
- Female
- Frontotemporal Dementia
(diagnosis, genetics)
- Genetic Predisposition to Disease
- Haplotypes
- Humans
- Italy
- Linkage Disequilibrium
- Male
- Middle Aged
- Neuropsychological Tests
- Odds Ratio
- Polymorphism, Single Nucleotide
- Sequence Analysis, DNA
- White People
(genetics)
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