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1.
Neurobiol Dis ; 58: 179-82, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23732677

RESUMO

Habitual consumption of caffeine, a non-selective adenosine receptor (AR) antagonist, has been suggested to be beneficial in Parkinson's and Alzheimer's diseases. Experimental evidence support that ARs play a role in Huntington's disease (HD) raising the hypothesis that caffeine may be a life-style modifier in HD. To determine a possible relationship between caffeine consumption and age at onset (AAO) in HD, we retrospectively assessed caffeine consumption in 80 HD patients using a dietary survey and determined relationship with AAO. Following adjustment for gender, smoking status and CAG repeat length, caffeine consumption greater than 190mg/day was significantly associated with an earlier AAO. These data support an association between habitual caffeine intake and AAO in HD patients, but further studies are warranted to understand the link between these variables.


Assuntos
Cafeína/efeitos adversos , Doença de Huntington/induzido quimicamente , Doença de Huntington/epidemiologia , Adulto , Idade de Início , Coffea/metabolismo , Feminino , França , Humanos , Doença de Huntington/genética , Modelos Lineares , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estudos Retrospectivos , Autorrelato , Estatísticas não Paramétricas , Expansão das Repetições de Trinucleotídeos/genética
3.
Neurobiol Dis ; 35(3): 474-6, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19591938

RESUMO

Based on the pathophysiological role of adenosine A(2A) receptors in HD, we have evaluated the association of the 1976C/T single-nucleotide polymorphism in the ADORA2A gene (rs5751876) with residual age at onset (AAO) in HD. The study population consisted of 791 unrelated patients belonging to the Huntington French Speaking Network. The variability in AAO attributable to the CAG repeats number was calculated by linear regression using the log (AAO) as the dependent variable, and the respective rs5751876 genotypes as independent variables. We show that the rs5751876 variant significantly influences the variability in AAO. The R(2) statistic rose slightly but significantly (p=0.019) when rs5751876 T/T genotype was added to the regression model. Patients harbouring T/T genotype have an earlier AAO of 3.8 years as compared to C/C genotype (p=0.02). Our data thus strengthens the pathophysiological role of A(2A) receptors in Huntington's disease.


Assuntos
Doença de Huntington/epidemiologia , Doença de Huntington/genética , Polimorfismo de Nucleotídeo Único , Receptor A2A de Adenosina/genética , Adolescente , Adulto , Idade de Início , Idoso , Criança , Estudos de Coortes , Genótipo , Humanos , Modelos Lineares , Pessoa de Meia-Idade , Expansão das Repetições de Trinucleotídeos , Adulto Jovem
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