A genetic variation in the ADORA2A

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• 作者：Claire-Marie Dhaenens ; Sylvie Burnouf ; Clé ; mence Simonin ; Edwige Van Brussel ; Alain Duhamel ; Luc Defebvre ; Cé ; cile Duru ; Isabelle Vuillaume ; Cé ; cile Cazeneuve ; Perrine Charles ; Patrick Mai
• 关键词：Huntington's disease ; A_2A receptors ; Polymorphism
• 刊名：Neurobiology of Disease
• 出版年：2009
• 出版时间：September 2009
• 年：2009
• 卷：35
• 期：3
• 页码：474-476
• 全文大小：159 K

文摘

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 R² 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.