Neurobiology of disease · 2009
A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease.
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Dhaenens Claire-Marie, Burnouf Sylvie, Simonin Clémence, Van Brussel Edwige, Duhamel Alain, Defebvre Luc, Duru Cécile, Vuillaume Isabelle, Cazeneuve Cécile, Charles Perrine, Maison Patrick, Debruxelles Sabrina, Verny Christophe, Gervais Hélène, Azulay Jean-Philippe, Tranchant Christine, Bachoud-Levi Anne-Catherine, Dürr Alexandra, Buée Luc, Krystkowiak Pierre, Sablonnière Bernard, Blum David, Huntington French Speaking Network
Аннотация
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.