Association study of two steroid biosynthesis genes (COMT and CYP17) with Alzheimer's disease in the Italian population.
J Neurol Sci
; 344(1-2): 149-53, 2014 Sep 15.
Article
em En
| MEDLINE
| ID: mdl-25012481
ABSTRACT
The greater predisposition of women to Alzheimer's disease (AD), owing to the decrease in postmenopausal estrogen, may be influenced by polymorphic variation in genes regulating estrogen metabolism (e.g., COMT) and estrogen biosynthesis (e.g., CYP17). In order to better understand how the estrogen pathway genetic variation might affect AD onset, we conducted a case-control study of two single nucleotide polymorphisms (SNPs) of these two genes (COMT rs4680 and CYP17 rs743572) in a sample of AD patients of Italian origin. The COMT allele and genotype were found associated neither with AD onset nor with parameters of AD severity, such as cognitive impairment, age at onset, or disease duration. In contrast, CYP17 was found to affect the age at disease onset mainly in males and, as compared with noncarriers, people carrying the A2 (C) allele had a 2.2-fold increased risk for AD. These findings suggest that the CYP17 A2 allele influences AD susceptibility in a sex-specific way by acting not only on AD risk but also on the age at disease onset, an important parameter of AD severity.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Esteroide 17-alfa-Hidroxilase
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Catecol O-Metiltransferase
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Predisposição Genética para Doença
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Polimorfismo de Nucleotídeo Único
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Doença de Alzheimer
Tipo de estudo:
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Aged
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Aged80
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Female
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Humans
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Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
J Neurol Sci
Ano de publicação:
2014
Tipo de documento:
Article