title: Prevalence of calreticulin exon 9 indel mutations in vascular risk patients.
abstract: BACKGROUND
  Acquired JAK2 as well as calreticulin (CALR) mutations are involved in the development of Philadelphia-negative myeloproliferative neoplasms (MPN). We previously showed that the JAK2 V617F mutation could also been found in coronary patients and in patients with peripheral arterial disease (PAD). However, prevalence of CALR mutations is unknown in vascular risk patients and its evaluation subject of the present study.
  
  
  METHODS
  We determined the prevalence of CALR exon 9 indel mutations in a cohort of 1052 angiographied coronary patients, including 141 patients with PAD, and, additionally, 86 patients with PAD, but without coronary angiography. CALR mutation analysis was performed using PCR fragment analysis and JAK2 V617F mutation analysis with allele-specific real-time PCR.
  
  
  RESULTS
  From included 1138 patients, 18 individuals were tested positive for the JAK2 V617F mutation. CALR exon 9 mutations were not detected in any of our patients.
  
  
  CONCLUSIONS
  We conclude that CALR exon 9 mutations are infrequent in vascular risk patients. Routine testing for the presence of CALR mutations is not recommended for unselected patients with vascular disease. Future studies are warranted to define a putative pathologic role of CALR mutations in patients without MPN.
authors.affiliation: Department of Medicine and Cardiology, Academic Teaching Hospital Feldkirch, Feldkirch, Austria; Private University of the Principality of Liechtenstein, Triesen, Liechtenstein.
authors.forename: Thomas
authors.initials: T
authors.lastname: Jaeger
authors.affiliation: Private University of the Principality of Liechtenstein, Triesen, Liechtenstein; Vorarlberg Institute for Vascular Investigation and Treatment (VIVIT), Feldkirch, Austria. Electronic address: axel.muendlein@vivit.at.
authors.forename: Axel
authors.initials: A
authors.lastname: Muendlein
authors.affiliation: Division of Hematology and Oncology, Laboratory for Clinical Oncogenomics, Medical University of Innsbruck, Austria.
authors.forename: Jasmin
authors.initials: J
authors.lastname: Hodaie
authors.affiliation: Division of Hematology and Oncology, Laboratory for Clinical Oncogenomics, Medical University of Innsbruck, Austria.
authors.forename: Gerold
authors.initials: G
authors.lastname: Untergasser
authors.affiliation: Division of Hematology and Oncology, Laboratory for Clinical Oncogenomics, Medical University of Innsbruck, Austria.
authors.forename: Michael
authors.initials: M
authors.lastname: Steurer
authors.affiliation: Department of Medicine and Cardiology, Academic Teaching Hospital Feldkirch, Feldkirch, Austria; Private University of the Principality of Liechtenstein, Triesen, Liechtenstein; Vorarlberg Institute for Vascular Investigation and Treatment (VIVIT), Feldkirch, Austria.
authors.forename: Christoph H
authors.initials: CH
authors.lastname: Saely
authors.affiliation: Department of Medicine and Cardiology, Academic Teaching Hospital Feldkirch, Feldkirch, Austria; Private University of the Principality of Liechtenstein, Triesen, Liechtenstein; Vorarlberg Institute for Vascular Investigation and Treatment (VIVIT), Feldkirch, Austria; Drexel College University of Medicine, Philadelphia, PA, USA.
authors.forename: Heinz
authors.initials: H
authors.lastname: Drexel
authors.affiliation: Department of Medicine and Cardiology, Academic Teaching Hospital Feldkirch, Feldkirch, Austria.
authors.forename: Alois H
authors.initials: AH
authors.lastname: Lang
mesh_terms: D000368:Aged; D037282:Calreticulin / Q000235:genetics*; D017023:Coronary Angiography; D003331:Coronary Vessels / Q000000981:diagnostic imaging; D005091:Exons; D005260:Female; D006801:Humans; D054643:INDEL Mutation; D053614:Janus Kinase 2 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D058729:Peripheral Arterial Disease / Q000000981:diagnostic imaging / Q000235:genetics*; D017354:Point Mutation; D015995:Prevalence
chemical_list: C576483:CALR protein, human; D037282:Calreticulin; C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: Calreticulin; Coronary angiography; Mutations; Peripheral arterial disease