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• W2114121788 abstract "<h3>Objective</h3>To investigate a modulating effect of the apolipoprotein E (APOE) polymorphism on age at onset of Machado-Joseph disease (MJD).<h3>Design</h3>We collected blood samples from 192 patients with MJD and typed the APOE polymorphism.<h3>Patients</h3>The 192 patients with MJD included 59 from the Azores, 73 from mainland Portugal, and 60 from Brazil.<h3>Setting</h3>Academic research center.<h3>Results</h3>Cases with the ε2/ε3 genotype had an earlier onset compared with those with the ε3/ε3 or the ε3/ε4 genotype. In this series of patients, the presence of an APOE ε2 allele implies a decrease of nearly 5 years in the age at onset. When combining several other predictors in a general linear model, namely, the presence/absence of the APOE ε2 allele, with the size of the (CAG)_n in expanded alleles, the model was significantly improved and the explanation of onset variance was raised from 59.8% to 66.5%. Furthermore, the presence of the ε2 allele was associated with an onset before age 39 years (odds ratio, 5.00; 95% CI, 1.18-21.14).<h3>Conclusion</h3>The polymorphism at the APOE gene plays a role as a genetic modifier of MJD phenotype." @default.
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• W2114121788 date "2011-12-01" @default.
• W2114121788 modified "2023-10-16" @default.
• W2114121788 title "The <emph type=ital>APOE</emph> ε2 Allele Increases the Risk of Earlier Age at Onset in Machado-Joseph Disease" @default.
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• W2114121788 doi "https://doi.org/10.1001/archneurol.2011.636" @default.
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