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β 2 ‐Adrenergic receptor and adenylate cyclase gene polymorphisms affect sickle red cell adhesion
Author(s) -
Eyler Christine E.,
Jackson Terry,
Elliott Laine E.,
De Castro Laura M.,
Jonassaint Jude,
AshleyKoch Allison,
Telen Marilyn J.
Publication year - 2008
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2008.07008.x
Subject(s) - adenylate kinase , receptor , cell adhesion , cell adhesion molecule , cyclase , adhesion , stimulation , biology , gene , integrin , medicine , adrenergic receptor , endocrinology , chemistry , cell , immunology , genetics , organic chemistry
Summary Sickle red cell (SS RBC) adhesion is thought to contribute to sickle cell disease (SCD) pathophysiology. SS RBC adhesion to laminin increases in response to adrenaline stimulation of β 2 ‐adrenergic receptors (β 2 ARs) and adenylate cyclase (ADCY6), and previous evidence suggests such activation occurs in vivo . We explored whether polymorphisms of the β 2 AR and ADCY6 genes ( ADRB2 and ADCY6 , respectively) affect RBC adhesion to laminin. We found that the β 2 AR arg 16 →gly substitution and two non‐coding ADCY6 polymorphisms were associated with elevated adhesion. We postulate that ADRB2 and ADCY6 polymorphisms may influence SCD severity through the mechanism of RBC adhesion.