title: A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease.
abstract: 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.
authors: Inserm, U837, Université Lille-Nord de France, USDL, IMPRT, Jean-Pierre Aubert Research Centre, Lille, France.
authors: Claire-Marie
authors: CM
authors: Dhaenens
authors: Sylvie
authors: S
authors: Burnouf
authors: Clémence
authors: C
authors: Simonin
authors: Edwige
authors: E
authors: Van Brussel
authors: Alain
authors: A
authors: Duhamel
authors: Luc
authors: L
authors: Defebvre
authors: Cécile
authors: C
authors: Duru
authors: Isabelle
authors: I
authors: Vuillaume
authors: Cécile
authors: C
authors: Cazeneuve
authors: Perrine
authors: P
authors: Charles
authors: Patrick
authors: P
authors: Maison
authors: Sabrina
authors: S
authors: Debruxelles
authors: Christophe
authors: C
authors: Verny
authors: Hélène
authors: H
authors: Gervais
authors: Jean-Philippe
authors: JP
authors: Azulay
authors: Christine
authors: C
authors: Tranchant
authors: Anne-Catherine
authors: AC
authors: Bachoud-Levi
authors: Alexandra
authors: A
authors: Dürr
authors: Luc
authors: L
authors: Buée
authors: Pierre
authors: P
authors: Krystkowiak
authors: Bernard
authors: B
authors: Sablonnière
authors: David
authors: D
authors: Blum
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002648:Child; D015331:Cohort Studies; D005838:Genotype; D006801:Humans; D006816:Huntington Disease / Q000453:epidemiology* / Q000235:genetics*; D016014:Linear Models; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D043705:Receptor, Adenosine A2A / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion; D055815:Young Adult
chemical_list: D043705:Receptor, Adenosine A2A