title: Prevalence of JAK2V617F mutation in deep venous thrombosis patients and its clinical significance as a thrombophilic risk factor: Indian perspective.
abstract: Venous thromboembolism is known to be a complex interaction of genetic and acquired factors leading to thrombosis. JAK2V617F mutation is believed to contribute to a thrombophilic phenotype, possibly through enhanced leukocyte-platelet interactions in myeloproliferative neoplasms (MPNs). Several studies have focused on the importance of screening for JAK2V617F mutation in patients with splanchnic venous thrombosis (VT) for the detection of nonovert MPNs. The role of JAK2V617F mutation in VT outside the splanchnic region is still widely unsettled. The primary aim of this study was to find out the prevalence of JAK2V617F mutation in patients with deep venous thrombosis (DVT), its clinical significance as a prothrombotic risk factor, and its possible interactions with other genetic thrombophilic risk factors. A total of 148 patients with idiopathic, symptomatic DVT were evaluated. Median age of presentation was 32 years (range 15-71 years) with a sex ratio of 1.3:1. Overall, the most common genetic prothrombotic factor was factor V Leiden mutation, found in 10.8% (16 of 148) of patients who also showed strong association with increased risk of thrombosis (odds ratio 5.94, confidence interval 1.33-26.4, P = .019). Deficiencies in protein C, protein S, and antithrombin were seen in 8 (5.4%), 10 (6.7%), and 8 (5.4%) patients, respectively. It was observed that the frequency of JAK2V617F mutation was lower in Indian patients, and it also showed weaker association with risk of thrombosis, at least in cases of venous thrombosis outside the splanchnic region.
authors: Department of Hematology, All India Institute of Medical Sciences, New Delhi, India renusaxena@outlook.com.
authors: Neha
authors: N
authors: Singh
authors: Department of Hematology, All India Institute of Medical Sciences, New Delhi, India.
authors: Amit
authors: A
authors: Sharma
authors: Department of Hematology, All India Institute of Medical Sciences, New Delhi, India.
authors: Sudha
authors: S
authors: Sazawal
authors: Department of Hematology, All India Institute of Medical Sciences, New Delhi, India.
authors: Ankur
authors: A
authors: Ahuja
authors: Department of Biostatistics, All India Institute of Medical Sciences, New Delhi, India.
authors: Ashish
authors: A
authors: Upadhyay
authors: Department of Hematology, All India Institute of Medical Sciences, New Delhi, India.
authors: Manoranjan
authors: M
authors: Mahapatra
authors: Department of Hematology, All India Institute of Medical Sciences, New Delhi, India renusaxena@outlook.com.
authors: Renu
authors: R
authors: Saxena
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D005260:Female; D006801:Humans; D007194:India / Q000453:epidemiology; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D015995:Prevalence; D011446:Prospective Studies; D012307:Risk Factors; D019851:Thrombophilia / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D020246:Venous Thrombosis / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: JAK2V617F mutation; venous thrombosis