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

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 polymorphi...

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Veröffentlicht in:European heart journal 2009-06, Vol.30 (12), p.1510-1515
Hauptverfasser: Saadjian, Alain Y., Gerolami, Victoria, Giorgi, Roch, Mercier, Laurence, Berge-Lefranc, Jean-Louis, Paganelli, Franck, Ibrahim, Zouher, By, Youlet, Guéant, Jean Louis, Lévy, Samuel, Guieu, Régis P.
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container_end_page 1515
container_issue 12
container_start_page 1510
container_title European heart journal
container_volume 30
creator Saadjian, Alain Y.
Gerolami, Victoria
Giorgi, Roch
Mercier, Laurence
Berge-Lefranc, Jean-Louis
Paganelli, Franck
Ibrahim, Zouher
By, Youlet
Guéant, Jean Louis
Lévy, Samuel
Guieu, Régis P.
description 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.
doi_str_mv 10.1093/eurheartj/ehp126
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This study aimed to evaluate the single nucleotide polymorphism (SNP) (c.1364 T&gt;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 &lt; 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.</description><identifier>ISSN: 0195-668X</identifier><identifier>EISSN: 1522-9645</identifier><identifier>DOI: 10.1093/eurheartj/ehp126</identifier><identifier>PMID: 19386617</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>A2A adenosine receptors ; Adenosine ; Adolescent ; Adult ; Aged ; Biological and medical sciences ; Cardiology. Vascular system ; Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes ; Female ; Genes ; Genetic Predisposition to Disease - genetics ; Genotype ; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy ; Humans ; Male ; Medical sciences ; Middle Aged ; Nervous system (semeiology, syndromes) ; Neurology ; Polymorphism, Single Nucleotide - genetics ; Receptor, Adenosine A2A - genetics ; Syncope ; Syncope - genetics ; Tilt-Table Test ; Young Adult</subject><ispartof>European heart journal, 2009-06, Vol.30 (12), p.1510-1515</ispartof><rights>Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2009. For permissions please email: journals.permissions@oxfordjournals.org 2009</rights><rights>2009 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c2886-4e319460c6fa488b22498ef7f1344f10732bffa8417e84e30d28eb59327c254a3</citedby><cites>FETCH-LOGICAL-c2886-4e319460c6fa488b22498ef7f1344f10732bffa8417e84e30d28eb59327c254a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,1584,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&amp;idt=21551318$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19386617$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Saadjian, Alain Y.</creatorcontrib><creatorcontrib>Gerolami, Victoria</creatorcontrib><creatorcontrib>Giorgi, Roch</creatorcontrib><creatorcontrib>Mercier, Laurence</creatorcontrib><creatorcontrib>Berge-Lefranc, Jean-Louis</creatorcontrib><creatorcontrib>Paganelli, Franck</creatorcontrib><creatorcontrib>Ibrahim, Zouher</creatorcontrib><creatorcontrib>By, Youlet</creatorcontrib><creatorcontrib>Guéant, Jean Louis</creatorcontrib><creatorcontrib>Lévy, Samuel</creatorcontrib><creatorcontrib>Guieu, Régis P.</creatorcontrib><title>Head-up tilt induced syncope and adenosine A2A receptor gene polymorphism</title><title>European heart journal</title><addtitle>Eur Heart J</addtitle><description>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&gt;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 &lt; 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. 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Cerebral palsy</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Neurology</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Receptor, Adenosine A2A - genetics</subject><subject>Syncope</subject><subject>Syncope - genetics</subject><subject>Tilt-Table Test</subject><subject>Young Adult</subject><issn>0195-668X</issn><issn>1522-9645</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqN0E1v1DAQBmALUdGlcOeEcqEXlNbjrzjHpWq7lSoh8VlxsbzOmE1JYmMnEvvvCWS1XDmNNHpmRvMS8groBdCaX-KUdmjT-HiJuwhMPSErkIyVtRLyKVlRqGWplH44Jc9zfqSUagXqGTmFmmuloFqRuw3appxiMbbdWLRDMzlsirwfXIhY2KEpbINDyO2AxZqti4QO4xhS8R3nTgzdvg8p7trcvyAn3nYZXx7qGfl8c_3palPev7-9u1rfl45prUqBHGqhqFPeCq23jIlao688cCE80IqzrfdWC6hQz5g2TONW1pxVjklh-Rk5X_bGFH5OmEfTt9lh19kBw5SNqnjFJKgZ0gW6FHJO6E1MbW_T3gA1f-Izx_jMEt888vqwe9r22PwbOOQ1gzcHYLOznU92cG0-OgZSAgc9u7eLC1P8n7Plots84q-jt-nH32-k2Tx8MzfvPnyUX_hXc8t_AzZwmSs</recordid><startdate>200906</startdate><enddate>200906</enddate><creator>Saadjian, Alain Y.</creator><creator>Gerolami, Victoria</creator><creator>Giorgi, Roch</creator><creator>Mercier, Laurence</creator><creator>Berge-Lefranc, Jean-Louis</creator><creator>Paganelli, Franck</creator><creator>Ibrahim, Zouher</creator><creator>By, Youlet</creator><creator>Guéant, Jean Louis</creator><creator>Lévy, Samuel</creator><creator>Guieu, Régis P.</creator><general>Oxford University Press</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200906</creationdate><title>Head-up tilt induced syncope and adenosine A2A receptor gene polymorphism</title><author>Saadjian, Alain Y. ; Gerolami, Victoria ; Giorgi, Roch ; Mercier, Laurence ; Berge-Lefranc, Jean-Louis ; Paganelli, Franck ; Ibrahim, Zouher ; By, Youlet ; Guéant, Jean Louis ; Lévy, Samuel ; Guieu, Régis P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2886-4e319460c6fa488b22498ef7f1344f10732bffa8417e84e30d28eb59327c254a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>A2A adenosine receptors</topic><topic>Adenosine</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Cardiology. Vascular system</topic><topic>Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes</topic><topic>Female</topic><topic>Genes</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genotype</topic><topic>Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Neurology</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Receptor, Adenosine A2A - genetics</topic><topic>Syncope</topic><topic>Syncope - genetics</topic><topic>Tilt-Table Test</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Saadjian, Alain Y.</creatorcontrib><creatorcontrib>Gerolami, Victoria</creatorcontrib><creatorcontrib>Giorgi, Roch</creatorcontrib><creatorcontrib>Mercier, Laurence</creatorcontrib><creatorcontrib>Berge-Lefranc, Jean-Louis</creatorcontrib><creatorcontrib>Paganelli, Franck</creatorcontrib><creatorcontrib>Ibrahim, Zouher</creatorcontrib><creatorcontrib>By, Youlet</creatorcontrib><creatorcontrib>Guéant, Jean Louis</creatorcontrib><creatorcontrib>Lévy, Samuel</creatorcontrib><creatorcontrib>Guieu, Régis P.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>European heart journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Saadjian, Alain Y.</au><au>Gerolami, Victoria</au><au>Giorgi, Roch</au><au>Mercier, Laurence</au><au>Berge-Lefranc, Jean-Louis</au><au>Paganelli, Franck</au><au>Ibrahim, Zouher</au><au>By, Youlet</au><au>Guéant, Jean Louis</au><au>Lévy, Samuel</au><au>Guieu, Régis P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Head-up tilt induced syncope and adenosine A2A receptor gene polymorphism</atitle><jtitle>European heart journal</jtitle><addtitle>Eur Heart J</addtitle><date>2009-06</date><risdate>2009</risdate><volume>30</volume><issue>12</issue><spage>1510</spage><epage>1515</epage><pages>1510-1515</pages><issn>0195-668X</issn><eissn>1522-9645</eissn><abstract>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&gt;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 &lt; 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.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>19386617</pmid><doi>10.1093/eurheartj/ehp126</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record>
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subjects A2A adenosine receptors
Adenosine
Adolescent
Adult
Aged
Biological and medical sciences
Cardiology. Vascular system
Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes
Female
Genes
Genetic Predisposition to Disease - genetics
Genotype
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Male
Medical sciences
Middle Aged
Nervous system (semeiology, syndromes)
Neurology
Polymorphism, Single Nucleotide - genetics
Receptor, Adenosine A2A - genetics
Syncope
Syncope - genetics
Tilt-Table Test
Young Adult
title Head-up tilt induced syncope and adenosine A2A receptor gene polymorphism
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