期刊论文详细信息
Arquivos de Neuro-Psiquiatria
Codon 129 polymorphism of prion protein gene in is not a risk factor for Alzheimer's disease
Jerusa Smid1  Michele Christine Landemberger1  Valéria Santoro Bahia1  Vilma Regina Martins1  Ricardo Nitrini1 
关键词: prion protein gene;    Alzheimer's disease;    polymorphism;    codon 129;    cognitive performance;    apolipoprotein E gene;    gene da proteína priônica;    doença de Alzheimer;    polimorfismo;    códon 129;    desempenho cognitivo;    gene da apolipoproteína E;   
DOI  :  10.1590/0004-282X20130055
来源: SciELO
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【 摘 要 】

Interaction of prion protein and amyloid-b oligomers has been demonstrated recently. Homozygosity at prion protein gene (PRNP) codon 129 is associated with higher risk for Creutzfeldt-Jakob disease. This polymorphism has been addressed as a possible risk factor in Alzheimer disease (AD).ObjectiveTo describe the association between codon 129 polymorphisms and AD.MethodsWe investigated the association of codon 129 polymorphism of PRNP in 99 AD patients and 111 controls, and the association between this polymorphism and cognitive performance. Other polymorphisms of PRNP and additive effect of apolipoprotein E gene (ApoE) were evaluated.ResultsCodon 129 genotype distribution in AD 45.5% methionine (MM), 42.2% methionine valine (MV), 12.1% valine (VV); and 39.6% MM, 50.5% MV, 9.9% VV among controls (p>0.05). There were no differences of cognitive performance concerning codon 129. Stratification according to ApoE genotype did not reveal difference between groups.ConclusionCodon 129 polymorphism is not a risk factor for AD in Brazilian patients.

【 授权许可】

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