Cathepsin D (C224T) polymorphism in sporadic and genetic Creutzfeldt-Jakob disease.
Alzheimer Dis Assoc Disord
; 24(1): 104-7, 2010.
Article
em En
| MEDLINE
| ID: mdl-19571726
ABSTRACT
Accumulation of cathepsin D immunoreactive lysosomes correlates with tissue pathology in sporadic Creutzfeldt-Jakob disease (CJD) brains. The C-to-T transition within exon 2 of the cathepsin D (CTSD) gene is associated with altered enzymatic activity. Possession of the TT genotype is a risk factor for variant CJD. To verify the association between the CTSD position 224T allele and the risk for and survival in sporadic and genetic CJD, we genotyped 540 sporadic, 101 genetic CJD, and 723 control individuals. Genotype data and duration of illness were compared using multiple logistic regression and Kruskal-Wallis test. Multivariate survival analysis was performed using Cox's regression model. The distribution of CTSD position 224 alleles was approximately the same in all groups. We observed a trend for shorter survival in sporadic CJD patients harboring the T allele at position 224 of the CTSD gene in particular in sporadic CJD patients with the prion protein gene position 129 MM genotype. We conclude that the CTSD position 224 polymorphism alone is not a significant risk or disease-modifying factor in sporadic or genetic CJD.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Creutzfeldt-Jakob
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Catepsina D
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Predisposição Genética para Doença
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
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Aged
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Female
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Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Alzheimer Dis Assoc Disord
Assunto da revista:
NEUROLOGIA
/
PSIQUIATRIA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Áustria