caa a22 4500 463256182 CHVBK 20180405153356.0 cr unu---uuuuu 170326e20071001xx s 000 0 eng 10.1007/s00277-007-0341-3 doi (NATIONALLICENCE)springer-10.1007/s00277-007-0341-3 Platelet glycoprotein Ibα polymorphisms and function evaluated by the platelet function analyzer PFA-100 in patients with lupus anticoagulant: the association with thromboembolic disease [Elektronische Daten] [Petra Jilma-Stohlawetz, Bernd Jilma, Christine Mannhalter, Peter Bencur, Ingrid Pabinger, Rainer Vormittag, Daniela Dunkler, Simon Panzer] Lupus anticoagulants (LA) are a surrogate marker for the risk of thromboembolic disease (TE). However, not all individuals with LA acquire TE, and it is desirable to distinguish those at risk for TE from those without. Platelets polymorphisms may contribute to the risk of TE, mainly those of glycoprotein (GP)Ibα: these are the variable number of tandem repeats (VNTR) and a dimorphism in the Kozak region, which affect platelet plug formation in healthy individuals under high shear stress rates. We determined polymorphisms within the GPIbα in individuals with persistent LA and a history of TE (LA/TE+) and in those without TE (LA/TE-). Further, we measured platelet function, as estimated by the collagen-epinephrine closure time (CEPI-CT) of the platelet function analyzer PFA-100 and compared all data with healthy controls. There was no difference of the VNTR alleles compared to healthy controls. The (−5)C allele of the Kozak dimorphism was significantly more frequent in LA patients compared to controls (p = 0.04), as a result of its increased frequency in LA/TE+ (vs controls p = 0.04), but there was no difference between LA/TE+ and LA/TE−. The increased frequency of the (−5)C allele resulted in an overrepresentation of (−5)TC genotype in the LA/TE+ group (p = 0.02) but not in a subgroup of 18 patients with arterial disease. The CEPI-CT of the PFA-100 was shorter in LA/TE+ than in LA/TE− (p = 0.044), but this difference did not persist after exclusion of patients with low platelet counts or low ristocetin cofactor activity. Unlike in healthy individuals, the CEPI-CT was not related to any Kozak dimorphism, neither in LA/TE−, nor in LA/TE+. Thus, the Kozak dimorphism may just contribute to stronger factors disposing individuals with LA towards TE without any discernible effect on their in vitro platelet function estimated by the PFA-100. Springer-Verlag, 2007 Lupus anticoagulants nationallicence Platelet glycoprotein polymorphisms nationallicence PFA-100 nationallicence Jilma-Stohlawetz Petra Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria aut Jilma Bernd Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria aut Mannhalter Christine Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Vienna, Vienna, Austria aut Bencur Peter Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Vienna, Vienna, Austria aut Pabinger Ingrid Division of Haematology and Haemostaseology, Department of Internal Medicine, Medical University of Vienna, Vienna, Austria aut Vormittag Rainer Division of Haematology and Haemostaseology, Department of Internal Medicine, Medical University of Vienna, Vienna, Austria aut Dunkler Daniela Core Unit for Medical Statistics and Informatics, Section of Clinical Biometrics, all Medical University of Vienna, Vienna, Austria aut Panzer Simon Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria aut Annals of Hematology Springer-Verlag 86/10(2007-10-01), 719-725 0939-5555 86:10<719 2007 86 277 https://doi.org/10.1007/s00277-007-0341-3 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00277-007-0341-3 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Jilma-Stohlawetz Petra Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria aut NATIONALLICENCE 700 1- Jilma Bernd Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria aut NATIONALLICENCE 700 1- Mannhalter Christine Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Vienna, Vienna, Austria aut NATIONALLICENCE 700 1- Bencur Peter Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Vienna, Vienna, Austria aut NATIONALLICENCE 700 1- Pabinger Ingrid Division of Haematology and Haemostaseology, Department of Internal Medicine, Medical University of Vienna, Vienna, Austria aut NATIONALLICENCE 700 1- Vormittag Rainer Division of Haematology and Haemostaseology, Department of Internal Medicine, Medical University of Vienna, Vienna, Austria aut NATIONALLICENCE 700 1- Dunkler Daniela Core Unit for Medical Statistics and Informatics, Section of Clinical Biometrics, all Medical University of Vienna, Vienna, Austria aut NATIONALLICENCE 700 1- Panzer Simon Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria aut NATIONALLICENCE 773 0- Annals of Hematology Springer-Verlag 86/10(2007-10-01), 719-725 0939-5555 86:10<719 2007 86 277 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer