A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease

被引：60

作者：

Dhaenens, Claire-Marie ^{[2
]}

Burnouf, Sylvie ^{[2
]}

Simonin, Clemence ^{[4
]}

Van Brussel, Edwige ^{[2
]}

Duhamel, Alain ^{[5
]}

Defebvre, Luc ^{[4
]}

Duru, Cecile ^{[6
]}

Vuillaume, Isabelle ^{[2
,3
]}

Cazeneuve, Cecile ^{[7
]}

Charles, Perrine ^{[7
,8
,9
]}

Maison, Patrick ^{[8
,9
]}

Debruxelles, Sabrina ^{[10
,11
]}

Verny, Christophe ^{[12
]}

Gervais, Helene ^{[13
]}

Azulay, Jean-Philippe ^{[14
]}

Tranchant, Christine ^{[15
]}

Bachoud-Levi, Anne-Catherine ^{[8
,9
]}

Duerr, Alexandra ^{[7
,8
,9
,16
]}

Buee, Luc ^{[2
]}

Krystkowiak, Pierre ^{[6
]}

Sablonniere, Bernard ^{[2
,3
]}

Blum, David ^{[1
,2
]}

机构：

[1] INSERM, U837, Jean Pierre Aubert Res Ctr, F-59045 Lille, France

[2] Univ Lille Nord France, USDL, IMPRT, Jean Pierre Aubert Res Ctr, Lille, France

[3] CHRU Lille, Ctr Biol Pathol, UF Neurobiol, Lille, France

[4] CHRU, IMPRT, Serv Neurol & Pathol Mouvement, EA 2683, Lille, France

[5] CHRU, CERIM, Lille, France

[6] Amiens Univ Hosp, CHU, CNRS, UMR 8160,Serv Neurol, Amiens, France

[7] Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France

[8] Ctr Reference Malad Rare Malad Huntington, AP HP, Creteil, France

[9] Ctr Reference Malad Rare Malad Huntington, AP HP, Paris, France

[10] Hop Pellegrin, CHU Bordeaux, Federat Neurosci Clin, F-33076 Bordeaux, France

[11] Hop Pellegrin, Serv Genet Med, F-33076 Bordeaux, France

[12] CHU Angers, Dept Neurol, Angers, France

[13] Hop Pierre Wertheimer, Serv Neurol, Lyon, France

[14] Hop La Timone, Serv Neurol & Pathol Mouvement, Marseille, France

[15] Hop Civil, Serv Neurol, Strasbourg, France

[16] INSERM, UMR S679, Paris, France

来源：

NEUROBIOLOGY OF DISEASE | 2009年 / 35卷 / 03期

关键词：

Huntington's disease; A(2A) receptors; Polymorphism; ADENOSINE A(2A) RECEPTORS; CAFFEINE-INDUCED ANXIETY; NEUROTROPHIC FACTOR; ASSOCIATION; POLYMORPHISM; CONSUMPTION; VARIANTS; COFFEE;

D O I：

10.1016/j.nbd.2009.06.009

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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. (C) 2009 Elsevier Inc. All rights reserved.

引用

页码：474 / 476

页数：3

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