TY - JOUR AU - Hoerber, S.* AU - Rettig, I.* AU - Peter, A. C1 - 52603 C2 - 44170 CY - Hoboken SP - 154-154 TI - Mitotic figure in the peripheral blood smear. JO - Am. J. Hematol. VL - 93 IS - 1 PB - Wiley PY - 2018 SN - 0361-8609 ER - TY - JOUR AU - Massner, C. AU - Pariani, G. AU - Rolbieski, H. AU - Sigmund, F. AU - Westmeyer, G.G. C1 - 48176 C2 - 41085 CY - Hoboken SP - E119 TI - Genetically controlled uptake of ferritin as an MRI contrast agent. JO - Am. J. Hematol. VL - 91 IS - 3 PB - Wiley-blackwell PY - 2016 SN - 0361-8609 ER - TY - JOUR AB - Introduction: The acquired JAK2 V617F mutation is common in patients with myeloproliferative neoplasms. We previously showed that JAK2 V617F is also found in coronary patients, most of them affected by coronary atherosclerosis. Peripheral arterial disease (PAD) is another important manifestation of atherosclerosis. However, prevalence of the JAK2 V617F mutation and its effect on clinical or hematologic characteristics is unknown in PAD patients. Methods: In the present study we determined the prevalence of JAK2 V617F in a cohort of 287 patients with sonographically proven PAD and compared mutation frequency with mutational status of 997 healthy people from the KORA F4 study. JAK2 V617F screening and quantification of allele burden in both cohorts was performed with same allele-specific quantitative real-time PCR method. Results: From a total of 287 PAD patients, 9 individuals were tested positive for the JAK2 V617F mutation. One patient showed elevated hemoglobin values, indicating polycythemia vera. Observed JAK2 V617F frequency (3.1%) in PAD patients showed a 5-fold, highly significant increase compared with healthy people (p<0.001). Furthermore, occurrence of the mutation in PAD patients was significantly decreased in patients using aspirin (p=0.003). Conclusion: We conclude that the prevalence of JAK2 V617F mutation is significantly increased in PAD patients compared to the general population. Future studies are warranted to confirm our observations and to define the underlying mechanisms behind our findings. AU - Muendlein, A.* AU - Kinz, E.* AU - Gasser, K.* AU - Leiherer, A.* AU - Rein, P.* AU - Saely, C.H.* AU - Grallert, H. AU - Peters, A. AU - Fraunberger, P.* AU - Drexel, H.* AU - Lang, A.H.* C1 - 32638 C2 - 35919 SP - E17-E21 TI - Occurrence of the JAK2 V617F mutation in patients with peripheral arterial disease. JO - Am. J. Hematol. VL - 90 IS - 1 PY - 2015 SN - 0361-8609 ER - TY - JOUR AB - The JAK2 V617F mutation is found in the majority of patients with myeloproliferative neoplasms (MPN), including essential thrombocythemia (ET), but also has been reported in individuals without overt MPN. A close relation of the JAK2 V617F mutation to atherothrombotic events has been described, at least in patients with MPN. The prevalence of the JAK2 V617F mutation and its clinical impact in coronary patients is unknown. To address this issue, DNA samples from 1,589 subjects undergoing coronary angiography with up to 11 years of follow up were genotyped using allele-specific real-time PCR assays. Prevalence of the JAK2 V617F mutation was 1.32% (n=21) in coronary patients. Two JAK2 V617F positive patients showed baseline platelet counts indicative for ET and a third patient developed ET during follow up, finally resulting in a percentage of 0.188% of ET cases. This corresponds to an up to 5-fold accumulation of ET cases in coronary patients compared to the general population. Our study showed no impact of the JAK2 V617F mutation on future atherothrombotic events or overall survival (HR=1.04 [0.33-3.27]; p=0.949 and HR=0.35 [0.05-2.46]; p=0.288, respectively). Therefore, our data suggest that JAK2 V617F positive coronary patients are not at increased risk for future atherothrombotic complications. Routine mutation screening in coronary patients is, therefore, not warranted. However, number of ET cases appears to be accumulated in coronary patients. For this reason, we recommend JAK2 V617F testing only in coronary patients showing abnormal blood cell counts for further clarification. AU - Muendlein, A.* AU - Gasser, K.* AU - Kinz, E.* AU - Stark, N.* AU - Leiherer, A.* AU - Rein, P.* AU - Saely, C.H.* AU - Grallert, H. AU - Peters, A. AU - Drexel, H.* AU - Lang, A.H.* C1 - 28432 C2 - 33372 CY - Hoboken SP - 295-301 TI - Evaluation of the prevalence and prospective clinical impact of the JAK2 V617F mutation in coronary patients. JO - Am. J. Hematol. VL - 89 IS - 3 PB - Wiley-Blackwell PY - 2014 SN - 0361-8609 ER - TY - JOUR AB - Protease-activated receptors (PAR)-1 and -4 are the principal receptors for thrombin-mediated platelet activation. Functional genetic variation has been described in the human PAR1 gene, but not in the PAR4 gene (F2RL3). We sought to identify variants in and around F2RL3 and to determine their association with perioperative myocardial injury (PMI) after coronary artery bypass graft surgery. We further explored possible mechanisms for F2RL3 single nucleotide polymorphism (SNP) associations with PMI including altered receptor expression and platelet activation. Twenty-three SNPs in the F2RL3 gene region were genotyped in two phases in 934 Caucasian subjects. Platelets from 43 subjects (23 major allele, 20 risk allele) homozygous for rs773857 (SNP with the strongest association with PMI) underwent flow cytometry to assess PAR4 receptor number and response to activation by a specific PAR4 activating peptide (AYPGKF) measured by von Willebrand factor (vWf) binding and P-selectin release and PAC-1 binding. We identified a novel association of SNP rs773857 with PMI (OR = 2.4, P = 0.004). rs773857 risk allele homozygotes have significantly increased platelet counts and platelets showed a significant increase in P-selectin release after activation (P = 0.004). We conclude that rs773857 risk allele homozygotes are associated with risk for increased platelet count and hyperactivity. AU - Muehlschlegel, J.D.* AU - Perry, T.E.* AU - Liu, K.Y.* AU - Fox, A.A.* AU - Smith, S.A.* AU - Lichtner, P. AU - Collard, C.D.* AU - Shernan, S.K.* AU - Hartwig, J.H.* AU - Body, S.C.* AU - Hoffmeister, K.M.* C1 - 5634 C2 - 29386 SP - 161-166 TI - Polymorphism in the protease-activated receptor-4 gene region associates with platelet activation and perioperative myocardial injury. JO - Am. J. Hematol. VL - 87 IS - 2 PB - Wiley-Blackwell PY - 2012 SN - 0361-8609 ER -