title: Low frequency of V617F mutation in JAK2 gene in Indian patients with hepatic venous outflow obstruction and extrahepatic portal venous obstruction.
abstract: BACKGROUND
  Hepatic venous outflow tract obstruction (HVOTO) and extrahepatic portal venous obstruction (EHPVO) are important causes of portal hypertension and related complications in India. Both these conditions result from splanchnic venous thrombosis. In recent years, a V617F somatic mutation in Janus kinase 2 (JAK2) gene which is highly specific for myeloproliferative disorders has been detected in 40 % to 50 % and 30 % to 35 % of Western patients with HVOTO and EHPVO, respectively. However, data on this mutation in these conditions from Asian countries are limited.
  
  
  METHODS
  We looked for JAK2 V617F mutation in Indian patients with HVOTO (n = 40, median age 31 [range 17-51] years, 21 female) and EHPVO (n = 50, median age 23 [15-70] years, 25 female) by using two separate methods. Both the methods involved polymerase chain reaction using allele-specific primers. Positive results on one or both of these techniques were confirmed using DNA sequencing.
  
  
  RESULTS
  None of the 40 patients with HVOTO and only 1 of 50 patients with EHPVO was found to have JAK2 V617F mutation. In the one patient who was found to have this mutation, both the PCR methods and DNA sequencing showed positive results.
  
  
  CONCLUSIONS
  Hypercoagulability associated with JAK2 V617F mutation and associated chronic myeloproliferative disorders was not a major cause of HVOTO and EHPVO in this population.
authors.affiliation: Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226 014, India. praveer_rai@yahoo.com.
authors.forename: Praveer
authors.initials: P
authors.lastname: Rai
authors.affiliation: Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226 014, India.
authors.forename: Pankaj
authors.initials: P
authors.lastname: Kumar
authors.affiliation: Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226 014, India.
authors.forename: Swapnil
authors.initials: S
authors.lastname: Mishra
authors.affiliation: Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226 014, India.
authors.forename: Rakesh
authors.initials: R
authors.lastname: Aggarwal
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D006502:Budd-Chiari Syndrome / Q000209:etiology / Q000235:genetics*; D002908:Chronic Disease; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D006975:Hypertension, Portal / Q000209:etiology; D007194:India; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders; D016491:Peripheral Vascular Diseases / Q000209:etiology / Q000235:genetics*; D011169:Portal Vein; D020246:Venous Thrombosis / Q000150:complications; D055815:Young Adult
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: Extrahepatic portal venous obstruction; Hepatic venous outflow tract obstruction; V617F mutation