title: Association of F11 polymorphism rs2289252 with deep vein thrombosis and related phenotypes in population of Latvia.
abstract: BACKGROUND
  Deep vein thrombosis (DVT) has a strong inherited predisposition that is partly explained by the strong genetic risk factors such as mutations in factor V, prothrombin, antithrombin III, protein C and S genes. Only recently the first GWAS have been performed on DVT resulting in discovery of novel genetic variants, however, the information on the common polymorphisms predisposing to the risk of DVT is still scarce.
  
  
  METHODS
  Here we selected six SNPs (rs5361 in SELE, rs2066865 in FGG, rs2227589 in SERPINC1, rs1613662 in GP6, rs13146272 in CYP4V2, rs2289252 in F11) reported to be associated with venous thrombosis conditions and studied the association of these common variants in selected case (n=177) and control (n=235) groups from population of Latvia. Genotyping was performed using TaqMan hybridization probe SNP genotyping assay.
  
  
  RESULTS
  Patients with DVT had a significantly higher frequency of F11 rs2289252 polymorphism (p=0.001; OR [95%CI]=1.61 [1.20-2.14]). When stratified by recurrence of DVT the tendency was observed that the same SNP had higher OR value in group of DVT patients with repeated episodes of DVT compared to patients with single DVT episode (p=0.009; OR [95%CI]=2.27[1.22-4.21] and p=0.009; OR [95%CI]=1.52[1.11-2.08] respectively), but due to limited group of cases this finding should be replicated.
  
  
  CONCLUSIONS
  We conclude that F11 gene variant rs2289252 contribute to inherited forms of DVT incidence and correlation of other analysed SNPs should be explored in populations with greater sample size and associated with various thrombosis related traits.
authors.affiliation: Latvian Biomedical Research and Study Centre, Ratsupites str. 1, LV-1067, Riga, Latvia. Electronic address: vita.rovite@biomed.lu.lv.
authors.forename: Vita
authors.initials: V
authors.lastname: Rovite
authors.affiliation: Dr. Maurins Vein Clinic, Kokneses pr. 18a, LV- 1014, Riga, Latvia. Electronic address: uldis.maurins@flebomedika.lv.
authors.forename: Uidis
authors.initials: U
authors.lastname: Maurins
authors.affiliation: Latvian Biomedical Research and Study Centre, Ratsupites str. 1, LV-1067, Riga, Latvia. Electronic address: kaspars.megnis@biomed.lu.lv.
authors.forename: Kaspars
authors.initials: K
authors.lastname: Megnis
authors.affiliation: Latvian Biomedical Research and Study Centre, Ratsupites str. 1, LV-1067, Riga, Latvia. Electronic address: iveta.vaivade@inbox.lv.
authors.forename: Iveta
authors.initials: I
authors.lastname: Vaivade
authors.affiliation: Latvian Biomedical Research and Study Centre, Ratsupites str. 1, LV-1067, Riga, Latvia. Electronic address: raitis.peculis@biomed.lu.lv.
authors.forename: Raitis
authors.initials: R
authors.lastname: Pečulis
authors.affiliation: Dr. Maurins Vein Clinic, Kokneses pr. 18a, LV- 1014, Riga, Latvia.
authors.forename: Juris
authors.initials: J
authors.lastname: Rits
authors.affiliation: Dr. Maurins Vein Clinic, Kokneses pr. 18a, LV- 1014, Riga, Latvia.
authors.forename: Sandra
authors.initials: S
authors.lastname: Prave
authors.affiliation: Latvian Biomedical Research and Study Centre, Ratsupites str. 1, LV-1067, Riga, Latvia. Electronic address: klovins@biomed.lu.lv.
authors.forename: Janis
authors.initials: J
authors.lastname: Klovins
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D005172:Factor XI / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D015994:Incidence; D007844:Latvia / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012008:Recurrence; D012307:Risk Factors; D020246:Venous Thrombosis / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005172:Factor XI
keywords: Association study; Coagulation disorders; Coagulation factor 11; Deep vein thrombosis; Genetic analysis; Thrombosis genetics