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<datestamp>2017-12-21</datestamp>
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<publisher>HAL CCSD</publisher>
<title lang=en>Association of adenylyl cyclase 6 rs3730070 polymorphism and hemolytic level in patients with sickle cell anemia</title>
<creator>Cita, Kizzy-Clara</creator>
<creator>Ferdinand, Séverine</creator>
<creator>Connes, Philippe</creator>
<creator>Brudey, Laura</creator>
<creator>Tressieres, Benoît</creator>
<creator>Etienne-Julan, Maryse</creator>
<creator>Lemonne, Nathalie</creator>
<creator>Tarer, Vanessa</creator>
<creator>Elion, Jacques</creator>
<creator>Romana, Marc</creator>
<contributor>Observatoire Régional de la Santé de la Guadeloupe ; Observatoire Régional de la Santé de la Guadeloupe</contributor>
<contributor>Dynamique des Structures et Interactions des Macromolécules Biologiques- Pôle de La Réunion (DSIMB Réunion) ; Dynamique des Structures et Interactions des Macromolécules Biologiques (DSIMB) ; Institut National de la Transfusion Sanguine [Paris] (INTS) - Université Paris Diderot - Paris 7 (UPD7) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Institut National de la Transfusion Sanguine [Paris] (INTS) - Université Paris Diderot - Paris 7 (UPD7) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Université de la Réunion (UR)</contributor>
<contributor>Centre d'Investigation Clinique Antilles-Guyane (CIC - Antilles Guyane) ; Université des Antilles et de la Guyane (UAG) - Institut National de la Santé et de la Recherche Médicale (INSERM) - CHU de Pointe-à-Pitre - Centre Hospitalier de Cayenne Andrée Rosemon - CHU de Fort de France</contributor>
<contributor>Unité Transversale de la Drépanocytose ; CHU Pointe-à-Pitre/Abymes</contributor>
<contributor>Service d'Orthopédie et de Traumatologie ; Université des Antilles et de la Guyane (UAG) - CHU Pointe-à-Pitre/Abymes</contributor>
<contributor>Insern, UMR 763, Hôpital Robert Debré ; Université Paris Diderot - Paris 7 (UPD7)</contributor>
<contributor>Protéines de la membrane érythrocytaire et homologues non-érythroides ; Université des Antilles et de la Guyane (UAG) - Institut National de la Transfusion Sanguine [Paris] (INTS) - Université Paris Diderot - Paris 7 (UPD7) - Université de la Réunion (UR) - Institut National de la Santé et de la Recherche Médicale (INSERM)</contributor>
<description>International audience</description>
<source>ISSN: 1079-9796</source>
<source>EISSN: 1096-0961</source>
<source>Blood Cells, Molecules and Diseases</source>
<publisher>Elsevier</publisher>
<identifier>hal-01668332</identifier>
<identifier>https://hal.univ-antilles.fr/hal-01668332</identifier>
<source>https://hal.univ-antilles.fr/hal-01668332</source>
<source>Blood Cells, Molecules and Diseases, Elsevier, 2016, 58, pp.21 - 25. 〈10.1016/j.bcmd.2016.02.006〉</source>
<identifier>DOI : 10.1016/j.bcmd.2016.02.006</identifier>
<relation>info:eu-repo/semantics/altIdentifier/doi/10.1016/j.bcmd.2016.02.006</relation>
<language>en</language>
<subject lang=en>Adenosine pathway</subject>
<subject lang=en> Adenylyl cyclase</subject>
<subject lang=en> Hemolysis</subject>
<subject lang=en> Sickle cell anemia</subject>
<subject>[SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology</subject>
<type>info:eu-repo/semantics/article</type>
<type>Journal articles</type>
<description lang=en>A recent study suggested that adenosine signaling pathway could promote hemolysis in patients with sickle cell anemia (SCA). This signaling pathway involves several gene coding enzymes for which variants have been described. In this study, we analyzed the genotype-phenotype relationships between functional polymorphisms or polymorphisms associated with altered expression of adenosine pathway genes, namely adenosine deaminase (ada; rs73598374), adenosine A2b receptor (adora2b; rs7208480), adenylyl cyclase6 (adcy6; rs3730071, rs3730070, rs7300155), and hemolytic rate in SCA patients. One hundred and fifty SCA patients were genotyped for adcy6, ada, and adora2b variants as well as alpha-globin gene, a genetic factor known to modulate hemolytic rate. Hematological and biochemical data were obtained at steady-state. Lactate dehydrogenase, aspartate aminotransferase, reticulocytes and total bilirubin were used to calculate a hemolytic index. Genotype-phenotype relationships were investigated using parametric tests and multivariate analysis. SCA patients carrying at least one allele of adcy6 rs3730070-G exhibited lower hemolytic rate than non-carriers in univariate analysis (p=0.006). The presence of adcy6 rs3730070-G variant was associated with a decreased hemolytic rate in adjusted model for age and alpha-thalassemia (p=0.032). Our results support a protective effect of adcy6 rs3730070-G variant on hemolysis in SCA patients.</description>
<date>2016-05</date>
</dc>
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