title: Sex modulation of the occurrence of jak2 v617f mutation in patients with splanchnic venous thrombosis.
abstract: BACKGROUND
  The JAK2 V617F mutation is an independent risk factor for MPN and SVT. Gender-related differences in MPN distribution have been reported and, recently, variability in the JAK2 V617F allele burden between sexes has been suggested. We wondered whether gender would modulate the role of the JAK2 V617F mutation as susceptibility risk factor for SVT.
  
  
  METHODS
  In 180 patients presenting with SVT, medical history was collected. The presence of the JAK2 V617F mutation and 46/1 haplotype was determined by polymerase chain reaction followed by TaqMan SNP genotyping assays.
  
  
  RESULTS
  Among patients with SVT, 43 (23.9%; 95%-CI: 18.2-30.7) carried the JAK2 V617F mutation. The JAK2 V617F mutation was found more frequently in women (29/95: 30.5%; 95%-CI: 22.1-40.4) than in men (14/85: 16.5%; 95%-CI: 10.0-25.9; OR: 2.2; 95%-CI: 1.1-4.5). The distribution of 46/1 haplotype frequencies did not differ significantly between men and women. In women carrying the rs12343867 CC genotype, the frequency observed for the occurrence of the V617F mutation was significantly higher than that observed in those not carrying (60.0% [95% CI: 31.2-83.3] vs. 26.8% [95% CI: 18.4-37.4]; OR: 4.1; 95%-CI: 1.1-14.9). In men, a similar prevalence was found among carriers of the rs12343867 CC genotype (16.7% [95% CI: 3.5-46.0]) and in non carriers (16.4% [95% CI: 9.3-27.2]). The V617F allele burden was unrelated to clinical characteristics and significantly higher in carriers of the rs12343867 CC genotype.
  
  
  CONCLUSIONS
  Present findings suggest that, in patients presenting with SVT, the JAK2 V617F mutation is frequently found in women and, possibly by interacting with the 46/1 haplotype, may represent a gender-related susceptibility allele for SVT.
authors.affiliation: Unita' di Aterosclerosi e Trombosi, I.R.C.C.S. Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Colaizzo
authors.forename: Giovanni Luca
authors.initials: GL
authors.lastname: Tiscia
authors.forename: Valeria
authors.initials: V
authors.lastname: Bafunno
authors.forename: Lucio
authors.initials: L
authors.lastname: Amitrano
authors.forename: Patrizia
authors.initials: P
authors.lastname: Vergura
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: Lupone
authors.forename: Elvira
authors.initials: E
authors.lastname: Grandone
authors.forename: Maria Anna
authors.initials: MA
authors.lastname: Guardascione
authors.forename: Maurizio
authors.initials: M
authors.lastname: Margaglione
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D012307:Risk Factors; D012737:Sex Factors; D020246:Venous Thrombosis / Q000201:enzymology* / Q000235:genetics*; D055815:Young Adult
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2