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Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis
Patrice Verpillat1, Agnès Camuzat, Didier Hannequin
1INSERM U535, Le Kremlin Bicêtre, France, and Département d'EpidAmiologie, de Biostatistique et de Recherche Clinique, Centre Hospitalier Universitaire Bichat-Claude Bernard, AP-HP/Université Paris VII, Paris, France. patrice.verpillat@bch.ap-hop-paris.fr
European Journal of Human Genetics : EJHG
|July 11, 2002
Summary
The apolipoprotein E (APOE) E2 allele is a potential genetic risk factor for frontotemporal dementia (FTD), particularly in neuropathologically confirmed cases. This contrasts with its protective role in Alzheimer's disease, suggesting distinct APOE pathway roles in neurodegeneration.
Area of Science:
- Genetics
- Neurodegenerative Diseases
- Molecular Biology
Background:
- Frontotemporal dementia (FTD) lacks identified genetic risk factors for non-monogenic forms.
- Previous studies on the association between apolipoprotein E (APOE) gene and FTD have yielded inconsistent results.
- Understanding genetic contributions to FTD is crucial for developing targeted therapies.
Purpose of the Study:
- To investigate the association between APOE gene variants and FTD risk.
- To clarify the role of APOE as a genetic risk factor in FTD using a large patient cohort and meta-analysis.
Main Methods:
- Genotyping of 94 unrelated FTD patients and 392 age/sex-matched controls.
- Meta-analysis of 10 case-control studies (364 FTD patients, 2671 controls) including the current study cohort.
- Stratification analysis based on familial history (FH) and neuropathological confirmation.
Main Results:
- Homozygosity for the APOE E2E2 genotype showed a significant association with FTD (OR=11.3, P=0.033).
- In neuropathologically confirmed FTD studies, the E2 allele frequency was significantly increased (OR [E2 vs E3]=2.01, P=0.04).
- No significant association was found for the APOE E4 allele in FTD.
Conclusions:
- The APOE E2 allele may represent a risk factor for frontotemporal dementia.
- This finding contrasts with APOE E2's protective role in Alzheimer's disease, indicating differential mechanisms in neurodegeneration.
- Further confirmation is needed to elucidate the role of APOE in FTD pathogenesis and its differential impact across neurodegenerative diseases.