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European Heart Journal Advance Access originally published online on April 21, 2009
European Heart Journal 2009 30(12):1510-1515; doi:10.1093/eurheartj/ehp126
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Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2009. For permissions please email: journals.permissions@oxfordjournals.org

Head-up tilt induced syncope and adenosine A2A receptor gene polymorphism

Alain Y. Saadjian1, Victoria Gerolami2, Roch Giorgi3, Laurence Mercier2, Jean-Louis Berge-Lefranc2, Franck Paganelli1, Zouher Ibrahim2, Youlet By2, Jean Louis Guéant4, Samuel Lévy1 and Régis P. Guieu2,5,*

1 Division of Cardiology, Hôpital Nord and School of Medicine, University of Méditerranée, 13326 Marseille Cedex 15, France
2 Laboratory of Biochemistry and Molecular Biology Centre, AP-HM and School of Medicine, University of Méditerranée, Marseille, France
3 LERTIM, EA 3283, School of Medicine, University of Méditerranée, Marseille, France
4 Laboratory of Molecular and Cell Pathology and Nutrition, INSERM U0014, Vandoeuvre les Nancy, France
5 UMR MD2 P2 COE Laboratoire de Physiologie et de Physiopathologie en Conditions D’oxygenation Extremes

Received 21 July 2008; revised 10 March 2009; accepted 11 March 2009; online publish-ahead-of-print 21 April 2009.

* Corresponding author. Tel: +33 4 91 38 56 50, Fax: +33 4 91 38 56 40, Email: guieu.regis{at}numericable.fr

Aims: High adenosine plasma levels and high expression of adenosine A2A receptors are observed in patients with unexplained syncope and a positive head-up tilt test (HUT). This study aimed to evaluate the single nucleotide polymorphism (SNP) (c.1364 T>C) which is the most commonly found polymorphism in the A2A receptor gene, in patients with unexplained syncope undergoing HUT.

Methods and results: One hundred and five patients with unexplained syncope who underwent HUT were included. Fifty-two had a positive test. Receptor genotype determinations were performed in patients and in 121 healthy subjects. Genotype (TT, CC, TC) was determined from DNA leucocytes. The distribution of the polymorphism showed significant (P < 0.0001) difference when the results of HUT were analysed. Fifty-two per cent of patients with a positive HUT had a CC genotype and 34.6% a TC genotype, whereas 13.2% of the patients with a negative HUT had a CC genotype and 71.7% a TC genotype. Patients with a CC genotype had a higher incidence of spontaneous syncopal episodes.

Conclusion: In patients with unexplained syncope, a significant association between high incidence of syncopal episodes, positive HUT, and the presence of the CC variant in the adenosine A2A receptor gene was elicited.

Key Words: Adenosine • Syncope • A2A adenosine receptors • Genes


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